Details for TMEM231:c.797G>C, p.Arg266Thr

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
7557530875541410
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE TMEM231
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT ENST00000568377.1
CDNA CHANGE c.797G>C
PROTEIN CHANGE p.Arg266Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.001070.00019490.0012350.00079740.00.00013940.0017590.0016713.293e-05

ESP
AAEA
0.00.001677
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.467393Polymorphism
DBSNP ID rs199813223
1 combination linked to TMEM231:c.797G>C, p.Arg266Thr OLI748
1 disease linked to TMEM231:c.797G>C, p.Arg266Thr Isolated anencephaly
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