APOC3 apolipoprotein C3

Canonical transcript: NM_000040

82 unique variant annotations were identified in 279 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
11-116700687-G-A c.-14+31G>A - intron_variant - 1/3 2
11-116700687-G-C c.-14+31G>C - intron_variant - 1/3 2
11-116700775-C-T c.-14+119C>T - intron_variant - 1/3 2
11-116700777-G-C c.-14+121G>C - intron_variant - 1/3 3
11-116700785-C-T c.-14+129C>T - intron_variant - 1/3 2
11-116700860-C-T c.-14+204C>T - intron_variant - 1/3 6
11-116701028-G-A c.-13-258G>A - IntronicSNV - 1/3 1
11-116701122-C-A c.-13-164C>A - IntronicSNV - 1/3 7
11-116701122-C-G c.-13-164C>G - IntronicSNV - 1/3 7
11-116701146-C-A c.-13-140C>A - IntronicSNV - 1/3 1
11-116701153-T-G c.-13-133T>G - IntronicSNV - 1/3 2
11-116701199-T-A c.-13-87T>A - IntronicSNV - 1/3 1
11-116701204-C-T c.-13-82C>T - IntronicSNV - 1/3 1
11-116701216-G-A c.-13-70G>A - IntronicSNV - 1/3 3
11-116701224-C-T c.-13-62C>T - IntronicSNV - 1/3 1
11-116701308-C-A c.10C>A p.Arg4Arg Synonymous 2/4 - 1
11-116701309-G-A c.11G>A p.Arg4Gln Missense 2/4 - 1
11-116701326-G-A c.28G>A p.Ala10Thr Missense 2/4 - 1
11-116701336-C-T c.38C>T p.Ala13Val Missense 2/4 - 1
11-116701353-C-G c.55C>G p.Arg19Gly Missense 2/4 - 15
11-116701353-C-T c.55C>T p.Arg19* Nonsense 2/4 - 74
11-116701354-G-A c.55+1G>A - IntronicSNV - 2/3 27
11-116701444-C-T c.56-45C>T - IntronicSNV - 2/3 1
11-116701489-G-C c.56G>C p.Arg19Pro Missense 3/4 - 3
11-116701489-G-T c.56G>T p.Arg19Leu Missense 3/4 - 1
11-116701500-G-A c.67G>A p.Ala23Thr Missense 3/4 - 10
11-116701503-G-A c.70G>A p.Glu24Lys Missense 3/4 - 1
11-116701505-G-C c.72G>C p.Glu24Asp Missense 3/4 - 1
11-116701505-G-T c.72G>T p.Glu24Asp Missense 3/4 - 1
11-116701506-G-A c.73G>A p.Asp25Asn Missense 3/4 - 1
11-116701507-A-T c.74A>T p.Asp25Val Missense 3/4 - 2
11-116701512-T-G c.79T>G p.Ser27Ala Missense 3/4 - 1
11-116701516-T-C c.83T>C p.Leu28Pro Missense 3/4 - 1
11-116701532-G-A c.99G>A p.Gln33Gln Synonymous 3/4 - 1
11-116701535-T-A c.102T>A p.Gly34Gly Synonymous 3/4 - 5
11-116701535-T-C c.102T>C p.Gly34Gly Synonymous 3/4 - 43
11-116701535-T-G c.102T>G p.Gly34Gly Synonymous 3/4 - 5
11-116701559-C-T c.126C>T p.Thr42Thr Synonymous 3/4 - 1
11-116701560-G-A c.127G>A p.Ala43Thr Missense 3/4 - 26
11-116701560-G-T c.127G>T p.Ala43Ser Missense 3/4 - 6
11-116701566-G-A c.133G>A p.Asp45Asn Missense 3/4 - 1
11-116701567-A-T c.134A>T p.Asp45Val Missense 3/4 - 1
11-116701605-C-A c.172C>A p.Gln58Lys Missense 3/4 - 1
11-116701613-G-T c.179+1G>T - IntronicSNV - 3/3 7
11-116701669-G-A c.179+57G>A - IntronicSNV - 3/3 4
11-116701669-G-C c.179+57G>C - IntronicSNV - 3/3 3
11-116701669-G-T c.179+57G>T - IntronicSNV - 3/3 3
11-116701674-T-A c.179+62T>A - IntronicSNV - 3/3 4
11-116701674-T-C c.179+62T>C - IntronicSNV - 3/3 4
11-116701718-C-T c.179+106C>T - IntronicSNV - 3/3 1
11-116701833-G-A c.179+221G>A - IntronicSNV - 3/3 2
11-116701850-T-A c.179+238T>A - IntronicSNV - 3/3 7
11-116701850-T-C c.179+238T>C - IntronicSNV - 3/3 7
11-116701854-G-A c.179+242G>A - IntronicSNV - 3/3 1
11-116702121-C-T c.179+509C>T - IntronicSNV - 3/3 1
11-116702123-T-C c.179+511T>C - IntronicSNV - 3/3 1
11-116702167-G-A c.179+555G>A - IntronicSNV - 3/3 1
11-116702229-C-T c.179+617C>T - IntronicSNV - 3/3 1
11-116702251-T-C c.179+639T>C - IntronicSNV - 3/3 1
11-116702345-T-A c.179+733T>A - IntronicSNV - 3/3 1
11-116702345-T-C c.179+733T>C - IntronicSNV - 3/3 1
11-116702362-T-C c.179+750T>C - IntronicSNV - 3/3 2
11-116702362-T-G c.179+750T>G - IntronicSNV - 3/3 2
11-116702579-T-C c.180-901T>C - IntronicSNV - 3/3 1
11-116702778-C-A c.180-702C>A - IntronicSNV - 3/3 4
11-116702778-C-T c.180-702C>T - IntronicSNV - 3/3 4
11-116703146-C-A c.180-334C>A - IntronicSNV - 3/3 4
11-116703146-C-T c.180-334C>T - IntronicSNV - 3/3 4
11-116703398-G-A c.180-82G>A - IntronicSNV - 3/3 1
11-116703398-G-C c.180-82G>C - IntronicSNV - 3/3 1
11-116703403-G-T c.180-77G>T - IntronicSNV - 3/3 1
11-116703445-A-T c.180-35A>T - IntronicSNV - 3/3 1
11-116703480-G-A c.180G>A p.Arg60Arg Synonymous 4/4 - 1
11-116703485-G-A c.185G>A p.Trp62* Nonsense 4/4 - 1
11-116703486-G-A c.186G>A p.Trp62* Nonsense 4/4 - 1
11-116703540-G-A c.240G>A p.Lys80Lys Synonymous 4/4 - 2
11-116703564-C-A c.264C>A p.Asp88Glu Missense 4/4 - 1
11-116703640-G-C c.*40G>C - 3-UTRSNV 4/4 - 100
11-116703671-G-T c.*71G>T - 3-UTRSNV 4/4 - 22
11-116703696-C-T c.*96C>T - 3-UTRSNV 4/4 - 1
11-116703739-C-G c.*139C>G - 3-UTRSNV 4/4 - 3
11-116703739-C-T c.*139C>T - 3-UTRSNV 4/4 - 3