chr3:87262138:G>C Detail (hg38) (POU1F1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:87,311,288-87,311,288 View the variant detail on this assembly version. |
| hg38 | chr3:87,262,138-87,262,138 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001122757.2:c.615C>G | NP_001116229.1:p.Ser205Arg |
| NM_000306.3:c.537C>G | NP_000297.1:p.Ser179Arg | |
| Ensemble | ENST00000344265.8:c.615C>G | ENST00000344265.8:p.Ser205Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2006-12-01 | no assertion criteria provided | Pituitary hormone deficiency, combined, 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Pituitary hormone deficiency, combined, 1 | NA | CLINVAR | Detail | |
| 0.011 | panhypopituitarism | Identification and functional analysis of the novel S179R POU1F1 mutation associ... | BeFree | 16968807 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000306.4(POU1F1):c.537C>G (p.Ser179Arg) AND Pituitary hormone deficiency, combined, 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined p... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs104893766 dbSNP
- Genome
- hg38
- Position
- chr3:87,262,138-87,262,138
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser