FADS1 fatty acid desaturase 1

Canonical transcript: NM_013402

42 unique variant annotations were identified in 467 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
11-61567753-C-A c.*2130G>T - 3-UTRSNV 12/12 - 21
11-61569306-C-A c.*577G>T - 3-UTRSNV 12/12 - 58
11-61569306-C-G c.*577G>C - 3-UTRSNV 12/12 - 58
11-61569830-C-T c.*53G>A - 3-UTRSNV 12/12 - 250
11-61570291-G-A c.1436C>T p.Ala479Val Missense 11/12 - 1
11-61570390-G-A c.1337C>T p.Pro446Leu Missense 11/12 - 10
11-61570783-T-C c.1248+52A>G - IntronicSNV - 9/11 233
11-61571348-C-G c.1054-109G>C - IntronicSNV - 7/11 127
11-61571348-C-T c.1054-109G>A - IntronicSNV - 7/11 127
11-61571382-G-A c.1054-143C>T - IntronicSNV - 7/11 74
11-61571478-T-C c.1054-239A>G - IntronicSNV - 7/11 182
11-61573540-C-T c.976+596G>A - IntronicSNV - 6/11 6
11-61573684-T-C c.976+452A>G - IntronicSNV - 6/11 14
11-61574999-C-A c.916-803G>T - IntronicSNV - 5/11 1
11-61574999-C-T c.916-803G>A - IntronicSNV - 5/11 1
11-61575158-A-G c.916-962T>C - IntronicSNV - 5/11 28
11-61575158-A-T c.916-962T>A - IntronicSNV - 5/11 28
11-61578230-G-A c.908C>T p.Ser303Phe Missense 5/12 - 1
11-61579381-T-G c.684+562A>C - IntronicSNV - 3/11 2
11-61579427-C-T c.684+516G>A - IntronicSNV - 3/11 6
11-61579463-A-G c.684+480T>C - IntronicSNV - 3/11 20
11-61579760-T-C c.684+183A>G - IntronicSNV - 3/11 45
11-61580635-C-T c.486+80G>A - IntronicSNV - 2/11 109
11-61581368-A-C c.376-543T>G - IntronicSNV - 1/11 9
11-61581368-A-G c.376-543T>C - IntronicSNV - 1/11 9
11-61581368-A-T c.376-543T>A - IntronicSNV - 1/11 9
11-61581450-A-G c.376-625T>C - IntronicSNV - 1/11 7
11-61581656-G-A c.376-831C>T - IntronicSNV - 1/11 19
11-61581764-T-C c.376-939A>G - IntronicSNV - 1/11 24
11-61582297-C-G c.376-1472G>C - IntronicSNV - 1/11 1
11-61582527-C-A c.375+1500G>T - IntronicSNV - 1/11 3
11-61582708-T-C c.375+1319A>G - IntronicSNV - 1/11 74
11-61582833-G-A c.375+1194C>T - IntronicSNV - 1/11 1
11-61584219-G-A c.183C>T p.Asp61Asp Synonymous 1/12 - 1
11-61584241-GC-TG c.160_161delinsCA p.Ala54His Missense 1/12 - 1
11-61584345-C-A c.57G>T p.Ala19Ala Synonymous 1/12 - 1
11-61584345-C-G c.57G>C p.Ala19Ala Synonymous 1/12 - 1
11-61584345-C-T c.57G>A p.Ala19Ala Synonymous 1/12 - 1
11-61584366-G-A c.36C>T p.Pro12Pro Synonymous 1/12 - 1
11-61584366-G-C c.36C>G p.Pro12Pro Synonymous 1/12 - 1
11-61584366-G-T c.36C>A p.Pro12Pro Synonymous 1/12 - 1
11-61584368-G-C c.34C>G p.Pro12Ala Missense 1/12 - 2