Overview

Variant ID 17172
Entrez Gene ID 221154
Gene MICU2 (GeneCards)
Location hg19 13:22197662-22197662
hg38 13:21623523-21623523
Disease Asymptomatic
Method HiSeq 2000
Mutation(HGVS format) NC_000013.10:g.22197662 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 115169878

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.1058
CADD Raw score (version 1.3) 0.052388 (Deleterious)
FATHMM raw prediction score 0.12642 (Tolerated)
Deleterious probability by DeFine 0.2711 (Neutral)
Entrez Gene ID 221154 (NCBI Gene)
Official Gene Symbol MICU2 (GeneCards)
Number of variants in MICU2 in this database 2 (view all the variants)
Full name mitochondrial calcium uptake 2
Band 13q12.11
Other IDs Vega: OTTHUMG00000067414
OMIM: 610632
HGNC: HGNC:31830
Ensembl: ENSG00000165487
Other names EFHA1, 1110008L20Rik
Summary None

Individual #1

Individual ID 29217584.04 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

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;