chr3:48572712:C>T Detail (hg38) (COL7A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:48,610,145-48,610,145 View the variant detail on this assembly version. |
| hg38 | chr3:48,572,712-48,572,712 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000094.3:c.6859G>A | NP_000085.1:p.Gly2287Arg |
| Ensemble | ENST00000328333.12:c.6859G>A | ENST00000328333.12:p.Gly2287Arg |
| ENST00000681320.1:c.6859G>A | ENST00000681320.1:p.Gly2287Arg |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
elderly onset |
germline
|
MGS000001
(TMGS000178) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1999-09-01 | no assertion criteria provided | recessive dystrophic epidermolysis bullosa |
germline
|
Detail |
|
Pathogenic
|
1999-09-01 | no assertion criteria provided | nonsyndromic congenital nail disorder 8 |
germline
|
Detail |
|
Pathogenic
|
no assertion criteria provided | Generalized dominant dystrophic epidermolysis bullosa |
germline
|
Detail | |
|
Pathogenic
|
2021-08-23 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2017-12-22 | criteria provided, single submitter | epidermolysis bullosa dystrophica |
de novo
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | COL7A1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.458 | Hallopeau-Siemens Disease | NA | CLINVAR | Detail | |
| 0.360 | TOENAIL DYSTROPHY, ISOLATED | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) AND Recessive dystrophic epidermolysis bullosa | ClinVar | Detail |
| NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) AND Nonsyndromic congenital nail disorder 8 | ClinVar | Detail |
| NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) AND Generalized dominant dystrophic epidermolysis bullo... | ClinVar | Detail |
| NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) AND not provided | ClinVar | Detail |
| NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) AND Epidermolysis bullosa dystrophica | ClinVar | Detail |
| NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) AND COL7A1-related disorder | ClinVar | Detail |
| NA | DisGeNET | 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
- rs121912839 dbSNP
- Genome
- hg38
- Position
- chr3:48,572,712-48,572,712
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser