Details for HERC2:c.12242G>A, p.Arg4081His

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
2837796528132819
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE HERC2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004667.5
CDNA CHANGE c.12242G>A
PROTEIN CHANGE p.Arg4081His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign3.256543Disease causing
DBSNP ID NA
1 combination linked to HERC2:c.12242G>A, p.Arg4081His OLI258
1 disease linked to HERC2:c.12242G>A, p.Arg4081His Central precocious puberty
Found any issues with the data on this page? Report this entry.