Details for POR:c.1798C>T, p.Arg600Trp

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
7561536975986051
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE POR
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000941.2
CDNA CHANGE c.1798C>T
PROTEIN CHANGE p.Arg600Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00040150.00.0024840.00.00.04.441e-050.00021880.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.365197Disease causing
DBSNP ID rs72557950
1 combination linked to POR:c.1798C>T, p.Arg600Trp OLI338
1 disease linked to POR:c.1798C>T, p.Arg600Trp Isolated Klippel-Feil syndrome
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