Details for DHX37:c.923G>A, p.Arg308Gln

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
125460022124975476
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DHX37
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_032656
CDNA CHANGE c.923G>A
PROTEIN CHANGE p.Arg308Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.445051Disease causing
DBSNP ID NA
2 combinations linked to DHX37:c.923G>A, p.Arg308Gln OLI1511; OLI1513
1 disease linked to DHX37:c.923G>A, p.Arg308Gln 46,XY disorder of sex development
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