Details for CELSR2:c.1736G>C, p.Gly579Ala

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
109794437109251815
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CELSR2
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_001408.2
CDNA CHANGE c.1736G>C
PROTEIN CHANGE p.Gly579Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00017910.00.00014460.00.00.00.00034330.0001630.0

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.055829Polymorphism
DBSNP ID rs200304391
1 combination linked to CELSR2:c.1736G>C, p.Gly579Ala OLI753
1 disease linked to CELSR2:c.1736G>C, p.Gly579Ala Isolated anencephaly
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