chr1:156105704:G>A Detail (hg19) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,105,704-156,105,704 |
hg38 | chr1:156,135,913-156,135,913 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001282624.1:c.706G>A | NP_001269553.1:p.Glu236Lys |
NM_001282625.1:c.949G>A | NP_001269554.1:p.Glu317Lys | |
NM_005572.3:c.949G>A | NP_005563.1:p.Glu317Lys |
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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2022-09-09 | criteria provided, single submitter | Primary dilated cardiomyopathy |
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Detail |
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2022-08-29 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2024-01-18 | criteria provided, single submitter | Charcot-Marie-Tooth disease type 2 |
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Detail |
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2016-06-27 | criteria provided, single submitter | cardiomyopathy |
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Detail |
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2018-09-25 | criteria provided, single submitter | not specified |
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Detail |
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2023-10-02 | criteria provided, single submitter | Primary familial dilated cardiomyopathy |
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Detail |
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2022-04-22 | criteria provided, single submitter | dilated cardiomyopathy 1A |
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Detail |
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2023-08-10 | criteria provided, single submitter |
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Detail | |
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2023-10-18 | criteria provided, single submitter | LMNA-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.443 | Cardiomyopathy, Familial Idiopathic | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND Primary dilated cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND not provided | ClinVar | Detail |
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND Charcot-Marie-Tooth disease type 2 | ClinVar | Detail |
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND Cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND not specified | ClinVar | Detail |
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND Primary familial dilated cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND Dilated cardiomyopathy 1A | ClinVar | Detail |
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND Cardiovascular phenotype | ClinVar | Detail |
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND LMNA-related disorder | ClinVar | 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
- rs56816490 dbSNP
- Genome
- hg19
- Position
- chr1:156,105,704-156,105,704
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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