Overview

Variant ID 28263
Entrez Gene ID 101928165
Gene CASC17 (GeneCards)
Location hg19 17:69973867-69973867
hg38 17:71977726-71977726
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000017.10:g.69973867 C>A (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 81195210

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.1813
CADD Raw score (version 1.3) 1.314891 (Deleterious)
FATHMM raw prediction score 0.1435 (Tolerated)
Deleterious probability by DeFine 0.4225 (Neutral)
Entrez Gene ID 101928165 (NCBI Gene)
Official Gene Symbol CASC17 (GeneCards)
Number of variants in CASC17 in this database 8 (view all the variants)
Full name cancer susceptibility 17
Band 17q24.3
Other IDs HGNC: HGNC:43911
Ensembl: ENSG00000260785
Other names LINC00600
Summary None

Individual #1

Individual ID 29217587.02 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID