chr4:186287800:G>A Detail (hg38) (F11, F11-AS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:187,208,954-187,208,954 View the variant detail on this assembly version. |
| hg38 | chr4:186,287,800-186,287,800 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000128.3:c.1693G>A | NP_000119.1:p.Glu565Lys |
| Ensemble | ENST00000403665.7:c.1693G>A | ENST00000403665.7:p.Glu565Lys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
no assertion provided | not provided |
not provided
|
Detail | |
Likely pathogenic
|
2019-02-01 | criteria provided, multiple submitters, no conflicts | Hereditary factor XI deficiency disease |
unknown
|
Detail |
Uncertain significance
|
2023-04-27 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.587 | factor XI deficiency | Genetic analysis in FXI deficiency: six novel mutations and the use of a polymer... | UNIPROT | 15953011 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000128.4(F11):c.1693G>A (p.Glu565Lys) AND not provided | ClinVar | Detail |
| NM_000128.4(F11):c.1693G>A (p.Glu565Lys) AND Hereditary factor XI deficiency disease | ClinVar | Detail |
| NM_000128.4(F11):c.1693G>A (p.Glu565Lys) AND not specified | ClinVar | Detail |
| Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-b... | 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
- rs281875275 dbSNP
- Genome
- hg38
- Position
- chr4:186,287,800-186,287,800
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser