Details for FGFR1:c.2165C>A, p.Pro722His

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827169138414173
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGFR1
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_023110.2
CDNA CHANGE c.2165C>A
PROTEIN CHANGE p.Pro722His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.281464Disease causing
DBSNP ID rs267606805
2 combinations linked to FGFR1:c.2165C>A, p.Pro722His OLI1394; OLI374
2 diseases linked to FGFR1:c.2165C>A, p.Pro722His Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with partial puberty phenotype
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