chr1:156134928:C> Detail (hg38) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,104,719-156,104,719 |
hg38 | chr1:156,134,928-156,134,928 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001282624.1:c.520delC | NP_001269553.1:p.Gln174ArgfsTer225 |
NM_001282626.1:c.763delC | NP_001269555.1:p.Gln255ArgfsTer225 | |
NM_170707.3:c.763delC | NP_733821.1:p.Gln255ArgfsTer225 |
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
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.763del (p.Gln255fs) AND Primary dilated cardiomyopathy | ClinVar | Detail |
NM_170707.4(LMNA):c.763del (p.Gln255fs) AND Charcot-Marie-Tooth disease type 2 | 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
- rs397517908 dbSNP
- Genome
- hg38
- Position
- chr1:156,134,928-156,134,928
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- -
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