Details for FGFR1:c.716T>C, p.Ile239Thr

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3828366938426151
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGFR1
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_023110.2
CDNA CHANGE c.716T>C
PROTEIN CHANGE p.Ile239Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.702588Disease causing
DBSNP ID NA
2 combinations linked to FGFR1:c.716T>C, p.Ile239Thr OLI196; OLI373
1 disease linked to FGFR1:c.716T>C, p.Ile239Thr Normosmic congenital hypogonadotropic hypogonadism
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