Details for FGF4:c.380G>A, p.Ser127Asn

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6958885669774088
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FGF4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_002007.2
CDNA CHANGE c.380G>A
PROTEIN CHANGE p.Ser127Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.013856Polymorphism
DBSNP ID rs768068982
1 combination linked to FGF4:c.380G>A, p.Ser127Asn OLI553
1 disease linked to FGF4:c.380G>A, p.Ser127Asn Schizophrenia
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