Details for FGFR1:c.682T>G, p.Tyr228Asp

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3828370338426185
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGFR1
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_023110.2
CDNA CHANGE c.682T>G
PROTEIN CHANGE p.Tyr228Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.109099Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.682T>G, p.Tyr228Asp OLI375
1 disease linked to FGFR1:c.682T>G, p.Tyr228Asp Normosmic congenital hypogonadotropic hypogonadism
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