chr1:209633028:C>T Detail (hg38) (LAMB3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:209,806,373-209,806,373 View the variant detail on this assembly version. |
| hg38 | chr1:209,633,028-209,633,028 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000228.2:c.628+42G>A | |
| NM_001127641.1:c.628+42G>A | ||
| NM_001017402.1:c.628+42G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[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 |
|---|---|---|---|---|---|
Pathogenic
|
2007-05-01 | no assertion criteria provided | Junctional epidermolysis bullosa, non-Herlitz type |
somatic
|
Detail |
|
Likely benign
|
2017-10-02 | criteria provided, single submitter | Junctional epidermolysis bullosa gravis of Herlitz |
unknown
|
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.628+42G>A AND Junctional epidermolysis bullosa, non-Herlitz type | ClinVar | Detail |
| NM_000228.3(LAMB3):c.628+42G>A AND Junctional epidermolysis bullosa gravis of Herlitz | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs587776812 dbSNP
- Genome
- hg38
- Position
- chr1:209,633,028-209,633,028
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser