Details for SLC7A14:c.1391G>T, p.Cys464Phe

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
170198680170480891
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SLC7A14
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_020949.2
CDNA CHANGE c.1391G>T
PROTEIN CHANGE p.Cys464Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00280.00.00.01390.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0010346.152e-052.891e-050.00.013430.02.638e-050.00065170.0001307

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.76414Polymorphism
DBSNP ID rs79668755
1 combination linked to SLC7A14:c.1391G>T, p.Cys464Phe OLI446
1 disease linked to SLC7A14:c.1391G>T, p.Cys464Phe Retinitis pigmentosa
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