chr6:6250887:T>A Detail (hg38) (F13A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:6,251,120-6,251,120 View the variant detail on this assembly version. |
| hg38 | chr6:6,250,887-6,250,887 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000129.3:c.614A>T | NP_000120.2:p.Tyr205Phe |
| Ensemble | ENST00000264870.8:c.614A>T | ENST00000264870.8:p.Tyr205Phe |
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 benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2017-04-27 | criteria provided, single submitter | Factor XIII, A subunit, deficiency of |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.155 | myocardial infarction | We therefore performed genotyping for factor XIIIA Val34Leu, Tyr204Phe and Pro56... | BeFree | 11841441 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000129.4(F13A1):c.614A>T (p.Tyr205Phe) AND Factor XIII, A subunit, deficiency of | ClinVar | Detail |
| We therefore performed genotyping for factor XIIIA Val34Leu, Tyr204Phe and Pro564Leu in a population... | 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
- rs3024477 dbSNP
- Genome
- hg38
- Position
- chr6:6,250,887-6,250,887
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.313208420078649E-4
- Chromosome Counts in All Race (ExAC)
- 121376
- Allele Counts in All Race (ExAC)
- 2082
- Heterozygous Counts in All Race (ExAC)
- 2052
- Homozygous Counts in All Race (ExAC)
- 15
- Allele Frequency in All Race (ExAC)
- 0.017153308726601636
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