chr1:209800770:ACACG> Detail (hg19) (LAMB3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:209,800,770-209,800,774 |
| hg38 | chr1:209,627,425-209,627,429 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001017402.1:c.1439_1443delCGTGT | NP_001017402.1:p.Pro480ArgfsTer54 |
| NM_000228.2:c.1439_1443delCGTGT | NP_000219.2:p.Pro480ArgfsTer54 | |
| NM_001127641.1:c.1439_1443delCGTGT | NP_001121113.1:p.Pro480ArgfsTer54 |
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
|
1998-12-01 | no assertion criteria provided | Junctional epidermolysis bullosa, non-Herlitz type |
germline
|
Detail |
|
Pathogenic
|
2022-04-27 | criteria provided, single submitter | junctional epidermolysis bullosa |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.560 | Adult junctional epidermolysis bullosa (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs) AND Junctional epidermolysis bullosa, non-Herlitz typ... | ClinVar | Detail |
| NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs) AND Junctional epidermolysis bullosa | 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
- rs786205095 dbSNP
- Genome
- hg19
- Position
- chr1:209,800,770-209,800,774
- Variant Type
- snv
- Reference Allele
- ACACG
- Alternative Allele
- -
Genome browser