chr1:156106165:G>A Detail (hg19) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,106,165-156,106,165 |
hg38 | chr1:156,136,374-156,136,374 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001257374.2:c.982G>A | NP_001244303.1:p.Val328Met |
NM_170707.3:c.1318G>A | NP_733821.1:p.Val440Met | |
NM_001282626.1:c.1318G>A | NP_001269555.1:p.Val440Met |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
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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2007-11-01 | no assertion criteria provided | Mandibuloacral dysplasia with type A lipodystrophy, atypical |
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Detail |
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2023-05-01 | criteria provided, single submitter | not provided |
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Detail |
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2023-06-17 | criteria provided, single submitter | Charcot-Marie-Tooth disease type 2 |
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Detail |
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criteria provided, single submitter | Charcot-Marie-Tooth disease |
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Detail | |
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2022-07-21 | criteria provided, single submitter | cardiomyopathy |
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Detail |
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2020-10-27 | criteria provided, single submitter | not specified |
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Detail |
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2023-04-17 | criteria provided, single submitter |
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Detail | |
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2023-11-30 | criteria provided, single submitter | Primary dilated cardiomyopathy |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.008 | Acquired partial lipodystrophy | The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) a... | BeFree | 10999845 | Detail |
0.026 | lipodystrophy | The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) a... | BeFree | 10999845 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND Mandibuloacral dysplasia with type A lipodystrophy, at... | ClinVar | Detail |
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND not provided | ClinVar | Detail |
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND Charcot-Marie-Tooth disease type 2 | ClinVar | Detail |
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND Charcot-Marie-Tooth disease | ClinVar | Detail |
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND Cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND not specified | ClinVar | Detail |
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND Cardiovascular phenotype | ClinVar | Detail |
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND Primary dilated cardiomyopathy | ClinVar | Detail |
The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and... | DisGeNET | Detail |
The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and... | 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
- rs121912493 dbSNP
- Genome
- hg19
- Position
- chr1:156,106,165-156,106,165
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs121912493
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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