| Variant ID | 12967 |
|---|---|
| Entrez Gene ID | 27130 |
| Gene | INVS (GeneCards) |
| Location | hg19 9:103005838-103005838
hg38 9:100243556-100243556 |
| Disease | Asymptomatic |
| Method | HiSeq 2000 |
| Mutation(HGVS format) | NC_000009.11:g.103005838 C>T (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0633 |
| CADD Raw score (version 1.3) | 0.249311 (Deleterious) |
| FATHMM raw prediction score | 0.16021 (Tolerated) |
| Deleterious probability by DeFine | 0.279 (Neutral) |
| Entrez Gene ID | 27130 (NCBI Gene) |
|---|---|
| Official Gene Symbol | INVS (GeneCards) |
| Number of variants in INVS in this database | 2 (view all the variants) |
| Full name | inversin |
| Band | 9q31.1 |
| Other IDs | Vega: OTTHUMG00000020364 OMIM: 243305 HGNC: HGNC:17870 Ensembl: ENSG00000119509 |
| Other names | INV, NPH2, NPHP2 |
| Summary | This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012] |
| Individual ID | 29217584.04 (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; |