Details for FGFR1:c.1368G>A, p.Met456Ile

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827580838418290
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_023110.3
CDNA CHANGE c.1368G>A
PROTEIN CHANGE p.Met456Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.381543Disease causing
DBSNP ID NA
2 combinations linked to FGFR1:c.1368G>A, p.Met456Ile OLI1290; OLI1597
2 diseases linked to FGFR1:c.1368G>A, p.Met456Ile Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome
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