Details for FSHR:c.491C>T, p.Ser164Phe

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
4921614948989010
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FSHR
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.491C>T
PROTEIN CHANGE p.Ser164Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.063482Polymorphism
DBSNP ID NA
1 combination linked to FSHR:c.491C>T, p.Ser164Phe OLI1047
1 disease linked to FSHR:c.491C>T, p.Ser164Phe Primary ovarian failure
Found any issues with the data on this page? Report this entry.