PMID: 30205563

Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.

International journal of molecular sciences
S Del Bino, C Duval, F Bernerd
2018-09-08

52 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
9-12704725-C-T TYRP1 c.1261+20C>T - IntronicSNV - 6/7
11-89017961-G-A TYR c.1205G>A p.Arg402Gln Missense 4/5 -
2-9661184-T-C ADAM17 c.957+148A>G - IntronicSNV - 8/18
15-48426484-A-T SLC24A5 c.331A>T p.Thr111Ser Missense 3/9 -
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
12-43847683-A-G ADAMTS20 c.1760+27T>C - IntronicSNV - 12/38
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
19-3544892-C-A MFSD12 c.1335G>T p.Ala445Ala Synonymous 9/10 -
15-28514281-T-C HERC2 c.1446+113A>G - IntronicSNV - 11/92
15-28514281-T-A HERC2 c.1446+113A>T - IntronicSNV - 11/92
15-28235773-C-T OCA2 c.1065G>A p.Ala355Ala Synonymous 10/24 -
15-48433494-A-G MYEF2 c.*1611T>C - 3-UTRSNV 17/17 -
6-396321-C-T IRF4 c.492+386C>T - IntronicSNV - 4/8
12-43863773-C-T ADAMTS20 c.1118-1265G>A - IntronicSNV - 7/38
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
15-28197037-T-C OCA2 c.1844A>G p.His615Arg Missense 18/24 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
15-48426484-A-G SLC24A5 c.331A>G p.Thr111Ala Missense 3/9 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
19-3544892-C-G MFSD12 c.1335G>C p.Ala445Ala Synonymous 9/10 -
19-3544892-C-T MFSD12 c.1335G>A p.Ala445Ala Synonymous 9/10 -
11-61076372-T-C DDB1 c.2661+83A>G - IntronicSNV - 21/26
5-33951693-C-A SLC45A2 c.1122G>T p.Leu374Phe Missense 5/7 -
10-108399797-T-G SORCS1 c.2476-10651A>C - IntronicSNV - 18/25
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
5-33963870-C-T SLC45A2 c.814G>A p.Glu272Lys Missense 3/7 -
9-12704725-C-A TYRP1 c.1261+20C>A - IntronicSNV - 6/7
9-12704725-C-G TYRP1 c.1261+20C>G - IntronicSNV - 6/7
15-28197037-T-A OCA2 c.1844A>T p.His615Leu Missense 18/24 -
5-33951693-C-G SLC45A2 c.1122G>C p.Leu374Phe Missense 5/7 -
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
11-61080557-C-T DDB1 c.2069+414G>A - IntronicSNV - 16/26
13-95096013-T-C DCT c.1279-122A>G - IntronicSNV - 8/9
15-28228553-C-T OCA2 c.1441G>A p.Ala481Thr Missense 14/24 -
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
20-33355046-G-A NCOA6 c.514+1221C>T - IntronicSNV - 5/14
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89986117-C-A MC1R c.451C>A p.Arg151Ser Missense 1/1 -
16-89986117-C-G MC1R c.451C>G p.Arg151Gly Missense 1/1 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
12-43882501-C-T ADAMTS20 c.1117+1697G>A - IntronicSNV - 7/38
20-32856998-A-G ASIP c.*25A>G - 3-UTRSNV 3/3 -
19-3545022-C-T MFSD12 c.1290-85G>A - IntronicSNV - 8/9
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
13-95096013-T-A DCT c.1279-122A>T - IntronicSNV - 8/9
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4