chr1:156106725:G>A Detail (hg19) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,106,725-156,106,725 |
hg38 | chr1:156,136,934-156,136,934 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001282624.1:c.1151G>A | NP_001269553.1:p.Gly384Asp |
NM_001282625.1:c.1394G>A | NP_001269554.1:p.Gly465Asp | |
NM_005572.3:c.1394G>A | NP_005563.1:p.Gly465Asp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-01-22 | criteria provided, single submitter | Familial partial lipodystrophy, Dunnigan type |
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Detail |
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no assertion provided | not provided |
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Detail | |
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2022-11-29 | criteria provided, single submitter | Charcot-Marie-Tooth disease type 2 |
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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 | |
0.627 | progeria | The mutant constructs used included the laminopathy-inducing lamin A rod domain ... | BeFree | 16440304 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) AND Familial partial lipodystrophy, Dunnigan type | ClinVar | Detail |
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) AND not provided | ClinVar | Detail |
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) AND Charcot-Marie-Tooth disease type 2 | ClinVar | Detail |
NA | DisGeNET | Detail |
The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
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- Gene
- -
- dbSNP
- rs61282106 dbSNP
- Genome
- hg19
- Position
- chr1:156,106,725-156,106,725
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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