| Variant ID | 4267 |
|---|---|
| Entrez Gene ID | 2492 |
| Gene | FSHR (GeneCards) |
| Location | hg19 2:49749125-49749125
hg38 2:49521987-49521987 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.49749125 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3017 |
| CADD Raw score (version 1.3) | -0.002707 (Deleterious) |
| FATHMM raw prediction score | 0.05952 (Tolerated) |
| Deleterious probability by DeFine | 0.7046 (Deleterious) |
| Entrez Gene ID | 2492 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FSHR (GeneCards) |
| Number of variants in FSHR in this database | 11 (view all the variants) |
| Full name | follicle stimulating hormone receptor |
| Band | 2p16.3 |
| Other IDs | Vega: OTTHUMG00000129259 OMIM: 136435 HGNC: HGNC:3969 Ensembl: ENSG00000170820 |
| Other names | LGR1, ODG1, FSHR1, FSHRO |
| Summary | The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] |
| 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 |
| 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; |