chr1:156135956:G>A Detail (hg38) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,105,747-156,105,747 View the variant detail on this assembly version. |
hg38 | chr1:156,135,956-156,135,956 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001282624.1:c.749G>A | NP_001269553.1:p.Arg250Gln |
NM_001282626.1:c.992G>A | NP_001269555.1:p.Arg331Gln | |
NM_170707.3:c.992G>A | NP_733821.1:p.Arg331Gln |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
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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2022-10-27 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2023-09-18 | criteria provided, multiple submitters, no conflicts | Primary dilated cardiomyopathy |
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Detail |
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2023-03-06 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
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Detail |
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2023-12-04 | criteria provided, single submitter | Charcot-Marie-Tooth disease type 2 |
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Detail |
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2020-04-04 | criteria provided, single submitter | dilated cardiomyopathy 1A |
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Detail |
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2019-12-13 | criteria provided, single submitter |
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Detail | |
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2023-05-15 | criteria provided, single submitter | Primary familial dilated cardiomyopathy |
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Detail |
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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.992G>A (p.Arg331Gln) AND not provided | ClinVar | Detail |
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND Primary dilated cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND Cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND Charcot-Marie-Tooth disease type 2 | ClinVar | Detail |
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND Dilated cardiomyopathy 1A | ClinVar | Detail |
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND Cardiovascular phenotype | ClinVar | Detail |
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) AND Primary familial dilated cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs59301204 dbSNP
- Genome
- hg38
- Position
- chr1:156,135,956-156,135,956
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8584
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 118358
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6897886074452087E-5
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