chr10:90750624:C>A Detail (hg19) (ACTA2, FAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:90,750,624-90,750,624 |
| hg38 | chr10:88,990,867-88,990,867 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000458159.6:c.-24+155G>T | |
| ENST00000713602.1:c.-182+155G>T |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000043.5:c.-10C>A | |
| NM_001320619.1:c.-10C>A | ||
| NM_152872.3:c.-10C>A |
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 |
|---|---|---|---|---|---|
|
Uncertain significance
|
2016-06-14 | criteria provided, single submitter | Autoimmune lymphoproliferative syndrome type 1 |
germline
|
Detail |
|
Uncertain significance
|
2016-06-14 | criteria provided, single submitter | Familial thoracic aortic aneurysm and aortic dissection |
germline
|
Detail |
|
Uncertain significance
|
2016-06-14 | criteria provided, single submitter | Moyamoya disease |
germline
|
Detail |
|
Uncertain significance
|
2016-06-14 | criteria provided, single submitter | Multisystemic smooth muscle dysfunction syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000043.6(FAS):c.-10C>A AND Autoimmune lymphoproliferative syndrome type 1 | ClinVar | Detail |
| NM_000043.6(FAS):c.-10C>A AND Familial thoracic aortic aneurysm and aortic dissection | ClinVar | Detail |
| NM_000043.6(FAS):c.-10C>A AND Moyamoya disease | ClinVar | Detail |
| NM_000043.6(FAS):c.-10C>A AND Multisystemic smooth muscle dysfunction syndrome | ClinVar | 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
- rs200181814 dbSNP
- Genome
- hg19
- Position
- chr10:90,750,624-90,750,624
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8600
- 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)
- 120820
- Allele Counts in All Race (ExAC)
- 45
- Heterozygous Counts in All Race (ExAC)
- 45
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.724548915742427E-4
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