Details for CACNG4:c.715C>T, p.Arg239Trp

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
6502685167030735
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CACNG4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_014405.3
CDNA CHANGE c.715C>T
PROTEIN CHANGE p.Arg239Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.592e-050.02.891e-050.05.437e-050.01.76e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.845828Polymorphism
DBSNP ID rs767219625
1 combination linked to CACNG4:c.715C>T, p.Arg239Trp OLI574
1 disease linked to CACNG4:c.715C>T, p.Arg239Trp Disorder of sex development
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