chr9:134842493:G>A Detail (hg38) (COL5A1, LOC101448202)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:137,734,339-137,734,339 View the variant detail on this assembly version. |
| hg38 | chr9:134,842,493-134,842,493 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000093.4:c.*190G>A | |
| Ensemble | ENST00000371817.8:c.*190G>A | |
| ENST00000371820.4:c.*190G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.034 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
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
|
2016-06-14 | criteria provided, single submitter | Ehlers-Danlos syndrome type 7A |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | carpal tunnel syndrome | One hundred and three self-reported coloured participants, with a history of car... | BeFree | 24966028 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000093.5(COL5A1):c.*190G>A AND Ehlers-Danlos syndrome type 7A | ClinVar | Detail |
| One hundred and three self-reported coloured participants, with a history of carpal tunnel release s... | 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
- rs55748801 dbSNP
- Genome
- hg38
- Position
- chr9:134,842,493-134,842,493
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs55748801
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0341
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 571
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser