Details for SCLY:c.4C>T, p.Pro2Ser

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
NoneNone
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SCLY
REFERENCE ALLELE None
ALTERNATE ALLELE None
TRANSCRIPT NM_016510
CDNA CHANGE c.4C>T
PROTEIN CHANGE p.Pro2Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
--None-
DBSNP ID NA
1 combination linked to SCLY:c.4C>T, p.Pro2Ser OLI1549
1 disease linked to SCLY:c.4C>T, p.Pro2Ser 46,XY disorder of sex development
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