chr1:156104265:C>A Detail (hg19) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,104,265-156,104,265 |
hg38 | chr1:156,134,474-156,134,474 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001257374.2:c.249C>A | NP_001244303.1:p.Asn83Lys |
NM_170707.3:c.585C>A | NP_733821.1:p.Asn195Lys | |
NM_001282626.1:c.585C>A | NP_001269555.1:p.Asn195Lys |
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 |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.627 | progeria | The mutant constructs used included the laminopathy-inducing lamin A rod domain ... | BeFree | 16440304 | Detail |
0.443 | Cardiomyopathy, Familial Idiopathic | Missense mutations in the rod domain of the lamin A/C gene as causes of dilated ... | UNIPROT | 10580070 | Detail |
0.443 | Cardiomyopathy, Familial Idiopathic | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_170707.4(LMNA):c.585C>A (p.Asn195Lys) AND not provided | ClinVar | Detail |
The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K... | DisGeNET | Detail |
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and c... | 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
- rs28933091 dbSNP
- Genome
- hg19
- Position
- chr1:156,104,265-156,104,265
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser