chr3:48575419:C>T Detail (hg38) (COL7A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:48,612,852-48,612,852 View the variant detail on this assembly version. |
| hg38 | chr3:48,575,419-48,575,419 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000094.3:c.6100G>A | NP_000085.1:p.Gly2034Arg |
| Ensemble | ENST00000328333.12:c.6100G>A | ENST00000328333.12:p.Gly2034Arg |
| ENST00000681320.1:c.6100G>A | ENST00000681320.1:p.Gly2034Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2002-03-01 | no assertion criteria provided | Generalized dominant dystrophic epidermolysis bullosa |
germline
|
Detail |
|
Pathogenic
|
2023-11-11 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2019-12-02 | criteria provided, single submitter | epidermolysis bullosa dystrophica |
germline
|
Detail |
|
Pathogenic
|
2022-02-17 | criteria provided, single submitter | recessive dystrophic epidermolysis bullosa,Generalized dominant dystrophic epidermolysis bullosa |
germline
|
Detail |
|
Pathogenic
|
2022-02-17 | criteria provided, single submitter | recessive dystrophic epidermolysis bullosa,Generalized dominant dystrophic epidermolysis bullosa |
germline
|
Detail |
|
Pathogenic
|
2023-12-19 | criteria provided, single submitter | COL7A1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.480 | Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) | NA | CLINVAR | Detail | |
| 0.363 | Epidermolysis bullosa pruriginosa | Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother ... | BeFree | 25113066 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) AND Generalized dominant dystrophic epidermolysis bullo... | ClinVar | Detail |
| NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) AND not provided | ClinVar | Detail |
| NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) AND Epidermolysis bullosa dystrophica | ClinVar | Detail |
| NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) AND multiple conditions | ClinVar | Detail |
| NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) AND multiple conditions | ClinVar | Detail |
| NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) AND COL7A1-related disorder | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dy... | 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
- rs121912844 dbSNP
- Genome
- hg38
- Position
- chr3:48,575,419-48,575,419
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser