chr4:186276318:G>A Detail (hg38) (F11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:187,197,472-187,197,472 View the variant detail on this assembly version. |
| hg38 | chr4:186,276,318-186,276,318 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000128.3:c.683G>A | NP_000119.1:p.Arg228Gln |
| Ensemble | ENST00000403665.7:c.683G>A | ENST00000403665.7:p.Arg228Gln |
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 |
Uncertain significance
|
| 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 | |
|
Uncertain significance
|
2017-12-28 | criteria provided, single submitter | Hereditary factor XI deficiency disease |
unknown
|
Detail |
|
Uncertain significance
|
2023-05-16 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.587 | factor XI deficiency | Revisiting the molecular epidemiology of factor XI deficiency: nine new mutation... | UNIPROT | 22159456 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000128.4(F11):c.683G>A (p.Arg228Gln) AND not provided | ClinVar | Detail |
| NM_000128.4(F11):c.683G>A (p.Arg228Gln) AND Hereditary factor XI deficiency disease | ClinVar | Detail |
| NM_000128.4(F11):c.683G>A (p.Arg228Gln) AND not specified | ClinVar | Detail |
| Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original la... | 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
- rs281875246 dbSNP
- Genome
- hg38
- Position
- chr4:186,276,318-186,276,318
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121408
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.471006852925672E-5
Genome browser