chr3:87309172:C>A Detail (hg19) (POU1F1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:87,309,172-87,309,172 |
hg38 | chr3:87,260,022-87,260,022 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001122757.2:c.826G>T | NP_001116229.1:p.Glu276Ter |
NM_000306.3:c.748G>T | NP_000297.1:p.Glu250Ter | |
Ensemble | ENST00000344265.8:c.826G>T | ENST00000344265.8:p.Glu276Ter |
Summary
MGeND
Clinical significance |
![]() |
Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
![]() |
pituitary hormone deficiency, combined |
![]() |
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
1995-06-01 | no assertion criteria provided | Pituitary hormone deficiency, combined, 1 |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | Pituitary hormone deficiency, combined, 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000306.4(POU1F1):c.748G>T (p.Glu250Ter) AND Pituitary hormone deficiency, combined, 1 | ClinVar | Detail |
NA | 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
- rs104893760 dbSNP
- Genome
- hg19
- Position
- chr3:87,309,172-87,309,172
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser