Details for VWF:c.4508T>C, p.Leu1503Pro

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
61280766018910
VARIANT EFFECT None
ANNOTATION FLAG None
GENE VWF
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.4508T>C
PROTEIN CHANGE p.Leu1503Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.072942Disease causing
DBSNP ID NA
1 combination linked to VWF:c.4508T>C, p.Leu1503Pro OLI1044
1 disease linked to VWF:c.4508T>C, p.Leu1503Pro Primary ovarian failure
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