chr4:187206800:C>A Detail (hg19) (F11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:187,206,800-187,206,800 |
| hg38 | chr4:186,285,646-186,285,646 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000128.3:c.1313C>A | NP_000119.1:p.Ser438Ter |
| Ensemble | ENST00000403665.7:c.1313C>A | ENST00000403665.7:p.Ser438Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2022-04-21 | criteria provided, multiple submitters, no conflicts | Hereditary factor XI deficiency disease |
unknown
|
Detail |
|
Pathogenic
|
2024-01-29 | criteria provided, single submitter | F11-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.587 | factor XI deficiency | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000128.4(F11):c.1313C>A (p.Ser438Ter) AND Hereditary factor XI deficiency disease | ClinVar | Detail |
| NM_000128.4(F11):c.1313C>A (p.Ser438Ter) AND F11-related disorder | 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
- rs786204724 dbSNP
- Genome
- hg19
- Position
- chr4:187,206,800-187,206,800
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser