Details for NR2F2:c.737G>A, p.Arg246His

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
9687759996334370
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NR2F2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_021005
CDNA CHANGE c.737G>A
PROTEIN CHANGE p.Arg246His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.58038Disease causing
DBSNP ID NA
1 combination linked to NR2F2:c.737G>A, p.Arg246His OLI1530
1 disease linked to NR2F2:c.737G>A, p.Arg246His 46,XY disorder of sex development
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