| Variant ID | 21994 |
|---|---|
| Entrez Gene ID | 7592 |
| Gene | ZNF41 (GeneCards) |
| Location | hg19 X:47313923-47313923
hg38 X:47454524-47454524 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.47313923 G>A (Genome Assembly: GRCh37) |
| 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 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.125304 (Deleterious) |
| FATHMM raw prediction score | 0.13166 (Tolerated) |
| Deleterious probability by DeFine | 0.1382 (Neutral) |
| Entrez Gene ID | 7592 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZNF41 (GeneCards) |
| Number of variants in ZNF41 in this database | 2 (view all the variants) |
| Full name | zinc finger protein 41 |
| Band | Xp11.3 |
| Other IDs | Vega: OTTHUMG00000021448 OMIM: 314995 HGNC: HGNC:13107 Ensembl: ENSG00000147124 |
| Other names | MRX89 |
| Summary | This gene encodes a protein that contains KRAB-A and KRAB-B domains multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. An initial study suggested that this gene may be associated with X-linked cognitive disability, but a later study has called this finding into question (PMID:23871722).[provided by RefSeq, Apr 2016] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |