chr1:156106147:GCACGCAC> Detail (hg19) (LMNA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,106,147-156,106,154 |
hg38 | chr1:156,136,356-156,136,363 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001282626.1:c.1300_1307delGCACGCAC | NP_001269555.1:p.Ala434Ter |
NM_170707.3:c.1300_1307delGCACGCAC | NP_733821.1:p.Ala434Ter | |
NM_001257374.2:c.964_971delGCACGCAC | NP_001244303.1:p.Ala322Ter |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.443 | Cardiomyopathy, Familial Idiopathic | NA | CLINVAR | Detail |
Annotation
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
- rs727504833 dbSNP
- Genome
- hg19
- Position
- chr1:156,106,147-156,106,154
- Variant Type
- snv
- Reference Allele
- GCACGCAC
- Alternative Allele
- -
Genome browser