Variant ID | 17172 |
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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) |
Exon or Intron | NA |
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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 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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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) |
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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 ID | 29217584.04 (view all the variants in this individual) |
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Pubmed ID | 29217584 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
Pubmed ID | 29217584 |
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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; |