Details for RXFP2:c.958C>A, p.Leu320Ile

CHROMOSOME 13
GENOMIC COORDINATES
hg19hg38
3236054831786411
VARIANT EFFECT None
ANNOTATION FLAG None
GENE RXFP2
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_130806
CDNA CHANGE c.958C>A
PROTEIN CHANGE p.Leu320Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.394805Polymorphism
DBSNP ID NA
1 combination linked to RXFP2:c.958C>A, p.Leu320Ile OLI1572
1 disease linked to RXFP2:c.958C>A, p.Leu320Ile Syndrome with 46,XY disorder of sex development
Found any issues with the data on this page? Report this entry.