chr1:156084836:G>A Detail (hg19) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,084,836-156,084,836 |
hg38 | chr1:156,115,045-156,115,045 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001282625.1:c.127G>A | NP_001269554.1:p.Ala43Thr |
NM_005572.3:c.127G>A | NP_005563.1:p.Ala43Thr | |
NM_001282626.1:c.127G>A | NP_001269555.1:p.Ala43Thr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[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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2018-04-03 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2023-10-13 | 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) | Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscu... | UNIPROT | 11503164 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr) AND not provided | ClinVar | Detail |
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr) AND Charcot-Marie-Tooth disease type 2 | ClinVar | Detail |
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. | 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
- rs60446065 dbSNP
- Genome
- hg19
- Position
- chr1:156,084,836-156,084,836
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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