Details for EPCAM:c.643T>A, p.Tyr215Asn

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
4760617947379040
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE EPCAM
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_002354.2
CDNA CHANGE c.643T>A
PROTEIN CHANGE p.Tyr215Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.592e-050.00.00.00.00.03.522e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.196901Disease causing
DBSNP ID rs750826481
1 combination linked to EPCAM:c.643T>A, p.Tyr215Asn OLI739
1 disease linked to EPCAM:c.643T>A, p.Tyr215Asn Isolated anencephaly
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