Details for CRABP2:c.349G>A, p.Asp117Asn

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
156670351156700559
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CRABP2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001199723.1
CDNA CHANGE c.349G>A
PROTEIN CHANGE p.Asp117Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00041760.00024610.00.00.00010874.619e-050.00082640.00048913.266e-05

ESP
AAEA
0.00.001047
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.643779Polymorphism
DBSNP ID rs146571038
1 combination linked to CRABP2:c.349G>A, p.Asp117Asn OLI698
1 disease linked to CRABP2:c.349G>A, p.Asp117Asn Isolated anencephaly
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