Details for PROK2:c.96+4A>G,

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
7183410471784953
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PROK2
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_001126128
CDNA CHANGE c.96+4A>G
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.69575None
DBSNP ID NA
1 combination linked to PROK2:c.96+4A>G, OLI1557
1 disease linked to PROK2:c.96+4A>G, Syndrome with 46,XY disorder of sex development

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