Overview

Variant ID 26564
Entrez Gene ID 114788
Gene CSMD3 (GeneCards)
Location hg19 8:115996000-115996000
hg38 8:114983771-114983771
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000008.10:g.115996000 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 146364022

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2001
CADD Raw score (version 1.3) -0.082205 (Deleterious)
FATHMM raw prediction score 0.10861 (Tolerated)
Deleterious probability by DeFine 0.5298 (Deleterious)
Entrez Gene ID 114788 (NCBI Gene)
Official Gene Symbol CSMD3 (GeneCards)
Number of variants in CSMD3 in this database 54 (view all the variants)
Full name CUB and Sushi multiple domains 3
Band 8q23.3
Other IDs Vega: OTTHUMG00000157027
OMIM: 608399
HGNC: HGNC:19291
Ensembl: ENSG00000164796
Other names None
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