chr4:187201487:C>T Detail (hg19) (F11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:187,201,487-187,201,487 |
| hg38 | chr4:186,280,333-186,280,333 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000128.3:c.976C>T | NP_000119.1:p.Arg326Cys |
| Ensemble | ENST00000403665.7:c.976C>T | ENST00000403665.7:p.Arg326Cys |
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 |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2019-02-01 | criteria provided, single submitter | Hereditary factor XI deficiency disease |
unknown
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.587 | factor XI deficiency | NA | CLINVAR | Detail | |
| 0.587 | factor XI deficiency | To determine the utility of single-stranded conformation polymorphism (SSCP) ana... | UNIPROT | 10606881 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000128.4(F11):c.976C>T (p.Arg326Cys) AND Hereditary factor XI deficiency disease | ClinVar | Detail |
| NA | DisGeNET | Detail |
| To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for screening ... | 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
- rs28934608 dbSNP
- Genome
- hg19
- Position
- chr4:187,201,487-187,201,487
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- Chromosome Counts in All Race (ExAC)
- 121410
- 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)
- 2.4709661477637757E-5
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