Overview

Variant ID 27214
Entrez Gene ID 960
Gene CD44 (GeneCards)
Location hg19 11:35223569-35223569
hg38 11:35202022-35202022
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000011.9:g.35223569 T>C (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 135006516

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.7602
CADD Raw score (version 1.3) 0.9629 (Deleterious)
FATHMM raw prediction score 0.32506 (Tolerated)
Deleterious probability by DeFine 0.7309 (Deleterious)
Entrez Gene ID 960 (NCBI Gene)
Official Gene Symbol CD44 (GeneCards)
Number of variants in CD44 in this database 4 (view all the variants)
Full name CD44 molecule (Indian blood group)
Band 11p13
Other IDs Vega: OTTHUMG00000044388
OMIM: 107269
HGNC: HGNC:1681
Ensembl: ENSG00000026508
Other names IN, LHR, MC56, MDU2, MDU3, MIC4, Pgp1, CDW44, CSPG8, HCELL, HUTCH-I, ECMR-III
Summary The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]

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