chr1:156100499:A>C Detail (hg19) (LMNA, LOC126805877)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,100,499-156,100,499 |
hg38 | chr1:156,130,708-156,130,708 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001282625.1:c.448A>C | NP_001269554.1:p.Thr150Pro |
NM_005572.3:c.448A>C | NP_005563.1:p.Thr150Pro | |
NM_001282624.1:c.205A>C | NP_001269553.1:p.Thr69Pro |
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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2012-03-15 | criteria provided, single submitter | Primary dilated cardiomyopathy |
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Detail |
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no assertion provided | not provided |
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Detail | |
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2015-02-18 | criteria provided, single submitter | Inborn genetic diseases |
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Detail |
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2022-02-02 | 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 |
---|---|---|---|---|---|
0.447 | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | Mutations in the rod domain of the lamin A/C gene may cause the full clinical sp... | UNIPROT | 10908904 | Detail |
0.443 | Cardiomyopathy, Familial Idiopathic | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) AND Primary dilated cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) AND not provided | ClinVar | Detail |
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) AND Inborn genetic diseases | ClinVar | Detail |
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) AND Charcot-Marie-Tooth disease type 2 | ClinVar | Detail |
Mutations in the rod domain of the lamin A/C gene may cause the full clinical spectrum of EDMD-AD. | DisGeNET | Detail |
NA | 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 |
---|
- Gene
- -
- dbSNP
- rs58917027 dbSNP
- Genome
- hg19
- Position
- chr1:156,100,499-156,100,499
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
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