Overview

Variant ID 28982
Entrez Gene ID 203413
Gene CT83 (GeneCards)
Location hg19 X:116499157-116499157
hg38 X:117365194-117365194
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000023.10:g.116499157 A>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 155270560

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
CADD Raw score (version 1.3) 0.664841 (Deleterious)
FATHMM raw prediction score 0.2662 (Tolerated)
Deleterious probability by DeFine 0.1781 (Neutral)
Entrez Gene ID 203413 (NCBI Gene)
Official Gene Symbol CT83 (GeneCards)
Number of variants in CT83 in this database 10 (view all the variants)
Full name cancer/testis antigen 83
Band Xq23
Other IDs Vega: OTTHUMG00000022244
OMIM: 300625
HGNC: HGNC:33494
Ensembl: ENSG00000204019
Other names KKLC1, CXorf61, KK-LC-1
Summary None

Individual #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID