Details for FGFR1:c.556C>G, p.Pro186Ala

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3828550438427986
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGFR1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_023110.2
CDNA CHANGE c.556C>G
PROTEIN CHANGE p.Pro186Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.701467Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.556C>G, p.Pro186Ala OLI019
1 disease linked to FGFR1:c.556C>G, p.Pro186Ala Congenital hypogonadotropic hypogonadism

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