Details for FGFR1:c.1065G>A, p.Trp355Ter

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827933138421813
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE FGFR1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_023110.2
CDNA CHANGE c.1065G>A
PROTEIN CHANGE p.Trp355Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.789059Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.1065G>A, p.Trp355Ter OLI652
1 disease linked to FGFR1:c.1065G>A, p.Trp355Ter Congenital hypogonadotropic hypogonadism
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