chr1:156137033:G>A Detail (hg38) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,106,824-156,106,824 View the variant detail on this assembly version. |
hg38 | chr1:156,137,033-156,137,033 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001282624.1:c.1245+5G>A | |
NM_001282626.1:c.1488+5G>A | ||
NM_170707.3:c.1488+5G>A |
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 |
---|---|---|---|---|---|
![]() |
no assertion provided | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.362 | Familial Partial Lipodystrophy, Type 2 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_170707.4(LMNA):c.1488+5G>A AND not provided | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs267607543 dbSNP
- Genome
- hg38
- Position
- chr1:156,137,033-156,137,033
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser