Overview

Variant ID 22293
Entrez Gene ID 9452
Gene ITM2A (GeneCards)
Location hg19 X:78937513-78937513
hg38 X:79682016-79682016
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000023.10:g.78937513 G>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 155270560

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
CADD Raw score (version 1.3) 0.179735 (Deleterious)
FATHMM raw prediction score 0.099 (Tolerated)
Deleterious probability by DeFine 0.0573 (Neutral)
Entrez Gene ID 9452 (NCBI Gene)
Official Gene Symbol ITM2A (GeneCards)
Number of variants in ITM2A in this database 1 (view all the variants)
Full name integral membrane protein 2A
Band Xq21.1
Other IDs Vega: OTTHUMG00000021900
OMIM: 300222
HGNC: HGNC:6173
Ensembl: ENSG00000078596
Other names E25A, BRICD2A
Summary This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

Individual #1

Individual ID 29217584.17 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Cockayne syndrome (view all the variants in this disease)
OMIM ID 216400

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;