chr3:48623813:G> Detail (hg19) (COL7A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:48,623,813-48,623,813 |
| hg38 | chr3:48,586,380-48,586,380 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000094.3:c.3502delC | NP_000085.1:p.Leu1169Ter |
| Ensemble | ENST00000328333.12:c.3502delC | ENST00000328333.12:p.Leu1169Ter |
| ENST00000681320.1:c.3502delC | ENST00000681320.1:p.Leu1169Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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
|
2014-06-05 | no assertion criteria provided | recessive dystrophic epidermolysis bullosa |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.458 | Hallopeau-Siemens Disease | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000094.4(COL7A1):c.3504del (p.Pro1168_Leu1169insTer) AND Recessive dystrophic epidermolysis bullo... | ClinVar | Detail |
| NA | 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
- rs730880286 dbSNP
- Genome
- hg19
- Position
- chr3:48,623,813-48,623,813
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- -
Genome browser