Variant ID | 12613 |
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Entrez Gene ID | 51312 |
Gene | SLC25A37 (GeneCards) |
Location | hg19 8:23450085-23450085
hg38 8:23592572-23592572 |
Disease | Cockayne syndrome (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000008.10:g.23450085 G>C (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 | 146364022 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.0042 |
CADD Raw score (version 1.3) | -0.250217 (Deleterious) |
FATHMM raw prediction score | 0.13027 (Tolerated) |
Deleterious probability by DeFine | 0.4617 (Neutral) |
Entrez Gene ID | 51312 (NCBI Gene) |
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Official Gene Symbol | SLC25A37 (GeneCards) |
Number of variants in SLC25A37 in this database | 1 (view all the variants) |
Full name | solute carrier family 25 member 37 |
Band | 8p21.2 |
Other IDs | Vega: OTTHUMG00000163865 OMIM: 610387 HGNC: HGNC:29786 Ensembl: ENSG00000147454 |
Other names | MSC, MFRN, MSCP, HT015, MFRN1, PRO1278, PRO1584, PRO2217 |
Summary | SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011] |
Individual ID | 29217584.16 (view all the variants in this individual) |
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Pubmed ID | 29217584 |
Whose mosaic mutation | Female Patient |
Phenotype | 3 |
Disease | Cockayne syndrome (view all the variants in this disease) |
OMIM ID | 216400 |
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; |