Details for CELSR1:c.3364G>A, p.Gly1122Ser

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
4692970446533807
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CELSR1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_014246.1
CDNA CHANGE c.3364G>A
PROTEIN CHANGE p.Gly1122Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.195e-050.00.00.00.00016320.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.680433Polymorphism
DBSNP ID rs200363699
2 combinations linked to CELSR1:c.3364G>A, p.Gly1122Ser OLI507; OLI508
1 disease linked to CELSR1:c.3364G>A, p.Gly1122Ser Isolated anencephaly
Found any issues with the data on this page? Report this entry.