chr1:156137029:G>A Detail (hg38) (LMNA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:156,106,820-156,106,820 View the variant detail on this assembly version. |
| hg38 | chr1:156,137,029-156,137,029 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001282624.1:c.1245+1G>A | |
| NM_001282626.1:c.1488+1G>A | ||
| NM_170707.3:c.1488+1G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2016-02-16 | criteria provided, single submitter | not provided |
germline
not provided
|
Detail |
Uncertain significance
|
2023-04-24 | criteria provided, single submitter |
germline
|
Detail | |
Likely pathogenic
|
2023-09-24 | criteria provided, single submitter | Charcot-Marie-Tooth disease type 2 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.485 | Mandibuloacral dysostosis | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_170707.4(LMNA):c.1488+1G>A AND not provided | ClinVar | Detail |
| NM_170707.4(LMNA):c.1488+1G>A AND Cardiovascular phenotype | ClinVar | Detail |
| NM_170707.4(LMNA):c.1488+1G>A AND Charcot-Marie-Tooth disease type 2 | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs267607640 dbSNP
- Genome
- hg38
- Position
- chr1:156,137,029-156,137,029
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser