Overview

Variant ID 12613
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)

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 146364022

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
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)
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 #1

Individual ID 29217584.16 (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;