PMID: 18854859

Fine-mapping and candidate gene investigation within the PARK10 locus.

European journal of human genetics : EJHG
K Haugarvoll, M Toft, L Skipper, MG Heckman, JE Crook, A Soto, OA Ross, MM Hulihan, JM Kachergus, SB Sando, LR White, T Lynch, JM Gibson, RJ Uitti, ZK Wszolek, JO Aasly, MJ Farrer
2009-03

173 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-53449699-T-G SCP2 c.973+3484T>G - IntronicSNV - 10/15
1-53449699-T-C SCP2 c.973+3484T>C - IntronicSNV - 10/15
1-49238750-C-G BEND5 c.226+3528G>C - IntronicSNV - 1/5
1-49238750-C-T BEND5 c.226+3528G>A - IntronicSNV - 1/5
1-49089197-A-G AGBL4 c.951+10968T>C - IntronicSNV - 9/13
1-51708783-A-G RNF11 c.123+6232A>G - IntronicSNV - 1/2
1-53074532-C-A GPX7 c.*435C>A - 3-UTRSNV 3/3 -
1-42337248-T-G HIVEP3 c.-801+46836A>C - intron_variant - 1/8
1-45414433-T-C EIF2B3 c.295-7096A>G - IntronicSNV - 3/11
1-42310165-G-A HIVEP3 c.-801+73919C>T - intron_variant - 1/8
1-53198893-A-G ZYG11B c.30+6538A>G - IntronicSNV - 1/13
1-54234215-T-C NDC1 c.1962-509A>G - IntronicSNV - 17/17
1-54790674-A-G SSBP3 c.277-43474T>C - IntronicSNV - 4/16
1-49165860-C-T AGBL4 c.635-36947G>A - IntronicSNV - 6/13
1-53336737-C-T ZYG11A c.1542+3288C>T - IntronicSNV - 8/13
1-42187205-A-G HIVEP3 c.-800-20539T>C - intron_variant - 1/8
1-53153432-T-C COA7 c.656A>G p.Lys219Arg Missense 3/3 -
1-54734738-G-A SSBP3 c.367-10916C>T - IntronicSNV - 5/16
1-55520212-G-A PCSK9 c.800-1454G>A - IntronicSNV - 5/11
1-48869288-T-A SPATA6 c.486+186A>T - IntronicSNV - 6/12
1-45451477-C-T EIF2B3 c.-10+688G>A - intron_variant - 1/11
1-52498370-C-T TXNDC12 c.159-4068G>A - IntronicSNV - 2/6
1-55327492-C-T DHCR24 c.1020+3484G>A - IntronicSNV - 6/8
1-55541174-A-G USP24 c.7403T>C p.Val2468Ala Missense 63/68 -
1-53986683-C-G GLIS1 c.1069-244G>C - IntronicSNV - 5/9
1-45362992-T-C EIF2B3 c.656+35A>G - IntronicSNV - 6/11
1-54414500-T-C LRRC42 c.-15+2278T>C - intron_variant - 1/7
1-49550529-C-A AGBL4 c.378-39057G>T - IntronicSNV - 4/13
1-49550529-C-T AGBL4 c.378-39057G>A - IntronicSNV - 4/13
1-45360287-T-G EIF2B3 c.656+2740A>C - IntronicSNV - 6/11
1-50128198-G-A AGBL4 c.282+34787C>T - IntronicSNV - 3/13
1-54190695-C-A GLIS1 c.-267+8882G>T - intron_variant - 1/9
1-52405688-T-C RAB3B c.229-2604A>G - IntronicSNV - 2/4
1-52799013-G-A ZFYVE9 c.3412+423G>A - IntronicSNV - 13/17
1-53072454-T-G GPX7 c.237T>G p.Phe79Leu Missense 2/3 -
1-53676448-G-A CPT2 c.1102G>A p.Val368Ile Missense 4/5 -
1-45431664-A-G EIF2B3 c.294+12323T>C - IntronicSNV - 3/11
1-53590423-C-T SLC1A7 c.215+9599G>A - IntronicSNV - 2/10
1-49672174-C-A AGBL4 c.377+39268G>T - IntronicSNV - 4/13
1-55448053-G-C TMEM61 c.15+1300G>C - IntronicSNV - 1/2
1-54190695-C-T GLIS1 c.-267+8882G>A - intron_variant - 1/9
1-49076711-C-T AGBL4 c.952-20054G>A - IntronicSNV - 9/13
1-48825355-G-C SPATA6 c.997C>G p.Arg333Gly Missense 10/13 -
1-48825355-G-A SPATA6 c.997C>T p.Arg333Trp Missense 10/13 -
1-53986683-C-T GLIS1 c.1069-244G>A - IntronicSNV - 5/9
1-53590423-C-G SLC1A7 c.215+9599G>C - IntronicSNV - 2/10
1-49468025-G-A AGBL4 c.594+43231C>T - IntronicSNV - 5/13
1-51439777-C-T CDKN2C c.342C>T p.Gly114Gly Synonymous 3/3 -
1-52264064-A-G NRDC c.2665T>C p.Leu889Leu Synonymous 24/33 -
1-47748852-G-C STIL c.1134-721C>G - IntronicSNV - 10/16
1-53579182-G-A SLC1A7 c.431+1248C>T - IntronicSNV - 3/10
1-49226137-G-A BEND5 c.360+872C>T - IntronicSNV - 2/5
1-53414766-T-C SCP2 c.199+1014T>C - IntronicSNV - 3/15
1-53414766-T-A SCP2 c.199+1014T>A - IntronicSNV - 3/15
1-52494417-A-T TXNDC12 c.159-115T>A - IntronicSNV - 2/6
1-50954996-T-C FAF1 c.1653+1264A>G - IntronicSNV - 17/18
1-51730054-C-G RNF11 c.124-5574C>G - IntronicSNV - 1/2
1-54867174-T-A SSBP3 c.276+360A>T - IntronicSNV - 4/16
1-54867174-T-C SSBP3 c.276+360A>G - IntronicSNV - 4/16
1-55567410-A-G USP24 c.5026-34T>C - IntronicSNV - 42/67
1-53763537-C-T LRP8 c.245-8176G>A - IntronicSNV - 2/18
1-53712727-C-T LRP8 c.2855G>A p.Arg952Gln Missense 19/19 -
1-53362818-T-C ECHDC2 c.708+291A>G - IntronicSNV - 8/8
1-45452227-G-C EIF2B3 c.-72C>G - 5_prime_UTR_variant 1/12 -
1-45452227-G-A EIF2B3 c.-72C>T - 5_prime_UTR_variant 1/12 -
1-54009279-C-G GLIS1 c.796-13654G>C - IntronicSNV - 3/9
1-54770909-A-C SSBP3 c.277-23709T>G - IntronicSNV - 4/16
1-55608005-C-T USP24 c.2634+410G>A - IntronicSNV - 23/67
1-42231106-T-C HIVEP3 c.-800-64440A>G - intron_variant - 1/8
1-53776616-C-T LRP8 c.244+15929G>A - IntronicSNV - 2/18
1-52292301-A-C NRDC c.1144+1167T>G - IntronicSNV - 7/32
1-48764419-C-A SPATA6 c.1433G>T p.Cys478Phe Missense 13/13 -
1-47275241-G-A CYP4B1 c.181-1239G>A - IntronicSNV - 1/11
1-55630151-T-C USP24 c.927+1407A>G - IntronicSNV - 7/67
1-55546895-T-C USP24 c.7078+100A>G - IntronicSNV - 59/67
1-42277781-T-A HIVEP3 c.-801+106303A>T - intron_variant - 1/8
1-55266845-C-T TTC22 c.1-9G>A - 5-UTRSNV 1/6 -
1-53503282-C-T SCP2 c.1339-1307C>T - IntronicSNV - 13/15
1-49762418-C-T AGBL4 c.283-50882G>A - IntronicSNV - 3/13
1-48764419-C-T SPATA6 c.1433G>A p.Cys478Tyr Missense 13/13 -
1-48764419-C-G SPATA6 c.1433G>C p.Cys478Ser Missense 13/13 -
1-52418121-G-C RAB3B c.229-15037C>G - IntronicSNV - 2/4
1-52418121-G-T RAB3B c.229-15037C>A - IntronicSNV - 2/4
1-54770909-A-G SSBP3 c.277-23709T>C - IntronicSNV - 4/16
1-53723495-A-G LRP8 c.2210-359T>C - IntronicSNV - 14/18
1-52426440-G-A RAB3B c.228+16122C>T - IntronicSNV - 2/4
1-52444234-G-A RAB3B c.1-1445C>T - IntronicSNV - 1/4
1-45451477-C-G EIF2B3 c.-10+688G>C - intron_variant - 1/11
1-49184988-A-C AGBL4 c.635-56075T>G - IntronicSNV - 6/13
1-53792651-A-C LRP8 c.138T>G p.Asp46Glu Missense 2/19 -
1-53223494-G-A ZYG11B c.196+1199G>A - IntronicSNV - 2/13
1-55341915-T-G DHCR24 c.388-195A>C - IntronicSNV - 2/8
1-51150743-G-A FAF1 c.657+20715C>T - IntronicSNV - 7/18
1-55474262-G-A BSND c.924G>A p.Pro308Pro Synonymous 4/4 -
1-54061333-T-C GLIS1 c.1-758A>G - IntronicSNV - 2/9
1-49106416-A-G AGBL4 c.840-6140T>C - IntronicSNV - 8/13
1-48699731-C-A SLC5A9 c.1216+297C>A - IntronicSNV - 10/14
1-52386868-T-C RAB3B c.473-1082A>G - IntronicSNV - 4/4
1-51826921-T-C EPS15 c.2466A>G p.Ile822Met Missense 24/25 -
1-53069514-C-G GPX7 c.138+1295C>G - IntronicSNV - 1/2
1-53069514-C-T GPX7 c.138+1295C>T - IntronicSNV - 1/2
1-52402029-T-A RAB3B c.347+937A>T - IntronicSNV - 3/4
1-55182300-T-A TTC4 c.139T>A p.Ser47Thr Missense 2/10 -
1-52402106-G-A RAB3B c.347+860C>T - IntronicSNV - 3/4
1-52402029-T-C RAB3B c.347+937A>G - IntronicSNV - 3/4
1-51903837-T-C EPS15 c.1040+2182A>G - IntronicSNV - 12/24
1-52644882-C-G ZFYVE9 c.-143+36807C>G - intron_variant - 1/17
1-55678499-G-C USP24 c.324+1964C>G - IntronicSNV - 1/67
1-53072796-G-T GPX7 c.400+179G>T - IntronicSNV - 2/2
1-53072796-G-C GPX7 c.400+179G>C - IntronicSNV - 2/2
1-55678499-G-A USP24 c.324+1964C>T - IntronicSNV - 1/67
1-55532742-G-T USP24 c.*1976C>A - 3-UTRSNV 68/68 -
1-45350028-C-A EIF2B3 c.657-2617G>T - IntronicSNV - 6/11
1-55532742-G-C USP24 c.*1976C>G - 3-UTRSNV 68/68 -
1-52517412-A-G TXNDC12 c.97+3260T>C - IntronicSNV - 1/6
1-52498861-A-T TXNDC12 c.159-4559T>A - IntronicSNV - 2/6
1-51820990-T-C EPS15 c.*1382A>G - 3-UTRSNV 25/25 -
1-55533811-T-C USP24 c.*907A>G - 3-UTRSNV 68/68 -
1-53073327-G-C GPX7 c.401-607G>C - IntronicSNV - 2/2
1-42039771-C-T HIVEP3 c.5207+1444G>A - IntronicSNV - 5/8
1-51820990-T-G EPS15 c.*1382A>C - 3-UTRSNV 25/25 -
1-49040384-T-C AGBL4 c.1267+12292A>G - IntronicSNV - 11/13
1-49515788-C-G AGBL4 c.378-4316G>C - IntronicSNV - 4/13
1-51762087-A-G TTC39A c.1057-245T>C - IntronicSNV - 12/17
1-55046446-A-G ACOT11 c.34-3882A>G - IntronicSNV - 1/16
1-49138179-T-G AGBL4 c.635-9266A>C - IntronicSNV - 6/13
1-48910976-G-A SPATA6 c.238+6248C>T - IntronicSNV - 3/12
1-42002163-G-A HIVEP3 c.5208-11582C>T - IntronicSNV - 5/8
1-52498656-T-C TXNDC12 c.159-4354A>G - IntronicSNV - 2/6
1-49184988-A-T AGBL4 c.635-56075T>A - IntronicSNV - 6/13
1-53582306-A-T SLC1A7 c.216-1661T>A - IntronicSNV - 2/10
1-55030530-A-C ACOT11 c.33+16515A>C - IntronicSNV - 1/16
1-55030530-A-G ACOT11 c.33+16515A>G - IntronicSNV - 1/16
1-53748286-G-A LRP8 c.368-1899C>T - IntronicSNV - 3/18
1-45360287-T-A EIF2B3 c.656+2740A>T - IntronicSNV - 6/11
1-53072454-T-C GPX7 c.237T>C p.Phe79Phe Synonymous 2/3 -
1-52498112-C-A TXNDC12 c.159-3810G>T - IntronicSNV - 2/6
1-52374952-A-C RAB3B c.*10647T>G - 3-UTRSNV 5/5 -
1-49054807-G-A AGBL4 c.1104+1698C>T - IntronicSNV - 10/13
1-52705427-T-C ZFYVE9 c.2178+160T>C - IntronicSNV - 4/17
1-42094719-A-G HIVEP3 c.-720-101T>C - intron_variant - 2/8
1-50458269-T-A AGBL4 c.34+31166A>T - IntronicSNV - 1/13
1-54480398-G-T LDLRAD1 c.74-361C>A - IntronicSNV - 2/5
1-54480398-G-C LDLRAD1 c.74-361C>G - IntronicSNV - 2/5
1-49208618-G-T BEND5 c.746-175C>A - IntronicSNV - 3/5
1-49208618-G-C BEND5 c.746-175C>G - IntronicSNV - 3/5
1-52644882-C-T ZFYVE9 c.-143+36807C>T - intron_variant - 1/17
1-52628289-A-G ZFYVE9 c.-143+20214A>G - intron_variant - 1/17
1-53321948-A-T ZYG11A c.257-722A>T - IntronicSNV - 2/13
1-42378229-T-C HIVEP3 c.-801+5855A>G - intron_variant - 1/8
1-54368253-A-C DIO1 c.338-2086A>C - IntronicSNV - 1/3
1-55316418-G-A DHCR24 c.*1488C>T - 3-UTRSNV 9/9 -
1-55557540-T-C USP24 c.6554+156A>G - IntronicSNV - 54/67
1-53266749-G-A ZYG11B c.1486-742G>A - IntronicSNV - 8/13
1-54841099-T-C SSBP3 c.276+26435A>G - IntronicSNV - 4/16
1-53772544-C-G LRP8 c.245-17183G>C - IntronicSNV - 2/18
1-53772544-C-A LRP8 c.245-17183G>T - IntronicSNV - 2/18
1-42144764-C-T HIVEP3 c.-721+21823G>A - intron_variant - 2/8
1-55474262-G-T BSND c.924G>T p.Pro308Pro Synonymous 4/4 -
1-53784098-A-G LRP8 c.244+8447T>C - IntronicSNV - 2/18
1-47492417-T-G CYP4X1 c.177+2751T>G - IntronicSNV - 1/11
1-48266640-A-C TRABD2B c.813+505T>G - IntronicSNV - 3/6
1-55076430-A-G ACOT11 c.1629+2689A>G - IntronicSNV - 15/16
1-51319346-T-C FAF1 c.114+4255A>G - IntronicSNV - 2/18
1-45413846-A-G EIF2B3 c.295-6509T>C - IntronicSNV - 3/11
1-45450835-T-C EIF2B3 c.-10+1330A>G - intron_variant - 1/11
1-49347390-A-G AGBL4 c.595-14488T>C - IntronicSNV - 5/13
1-51963763-G-A EPS15 c.34-16777C>T - IntronicSNV - 1/24
1-54759105-C-G SSBP3 c.277-11905G>C - IntronicSNV - 4/16
1-54759105-C-A SSBP3 c.277-11905G>T - IntronicSNV - 4/16
1-45327230-G-A EIF2B3 c.1203-3751C>T - IntronicSNV - 10/11
1-53404211-C-T SCP2 c.70-3257C>T - IntronicSNV - 1/15
1-53404211-C-A SCP2 c.70-3257C>A - IntronicSNV - 1/15