Details for FGFR1:c.1025T>C, p.Leu342Ser

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827937138421853
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGFR1
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_023110.2
CDNA CHANGE c.1025T>C
PROTEIN CHANGE p.Leu342Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.83509Disease causing
DBSNP ID rs121909638
2 combinations linked to FGFR1:c.1025T>C, p.Leu342Ser OLI389; OLI408
1 disease linked to FGFR1:c.1025T>C, p.Leu342Ser Kallmann syndrome
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