Details for TTC26:c.148C>T, p.Arg50Cys

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
138822599139137853
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TTC26
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_024926.3
CDNA CHANGE c.148C>T
PROTEIN CHANGE p.Arg50Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00160.00.00.00790.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00070530.00024620.00020350.00.0088180.02.641e-050.00016320.0

ESP
AAEA
0.0002270.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.131647Polymorphism
DBSNP ID rs143880653
1 combination linked to TTC26:c.148C>T, p.Arg50Cys OLI294
1 disease linked to TTC26:c.148C>T, p.Arg50Cys Adolescent idiopathic scoliosis
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