chr3:87311248:A>G Detail (hg19) (POU1F1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:87,311,248-87,311,248 |
| hg38 | chr3:87,262,098-87,262,098 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001122757.2:c.655T>C | NP_001116229.1:p.Trp219Arg |
| NM_000306.3:c.577T>C | NP_000297.1:p.Trp193Arg | |
| Ensemble | ENST00000344265.8:c.655T>C | ENST00000344265.8:p.Trp219Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2001-04-01 | 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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000306.4(POU1F1):c.577T>C (p.Trp193Arg) 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
- rs104893758 dbSNP
- Genome
- hg19
- Position
- chr3:87,311,248-87,311,248
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121360
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.239947264337508E-6
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