Details for WDPCP:c.1032C>A, p.Cys344Ter

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
6363158663404451
VARIANT EFFECT None
ANNOTATION FLAG None
GENE WDPCP
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_015910.7
CDNA CHANGE c.1032C>A
PROTEIN CHANGE p.Cys344Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.447613Disease causing
DBSNP ID NA
1 combination linked to WDPCP:c.1032C>A, p.Cys344Ter OLI1456
1 disease linked to WDPCP:c.1032C>A, p.Cys344Ter Bardet-Biedl syndrome
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