Details for FGFR1:c.1809C>A, p.Cys603Ter

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
3827343338415915
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FGFR1
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.1809C>A
PROTEIN CHANGE p.Cys603Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.76544Disease causing
DBSNP ID NA
1 combination linked to FGFR1:c.1809C>A, p.Cys603Ter OLI1382
1 disease linked to FGFR1:c.1809C>A, p.Cys603Ter Hypogonadotropic hypogonadism with Fertile Eunuch phenotype
Found any issues with the data on this page? Report this entry.