Details for TTC26:c.889C>T, p.Arg297Cys

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
138849974139165228
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TTC26
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_024926.3
CDNA CHANGE c.889C>T
PROTEIN CHANGE p.Arg297Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.0040.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0010970.00.00.00.0061460.0050670.00034770.00082730.0002337

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.328612Polymorphism
DBSNP ID rs115547267
1 combination linked to TTC26:c.889C>T, p.Arg297Cys OLI292
1 disease linked to TTC26:c.889C>T, p.Arg297Cys Adolescent idiopathic scoliosis
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