chr1:156114966:C> Detail (hg38) (LMNA, LOC129931597)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,084,757-156,084,757 |
hg38 | chr1:156,114,966-156,114,966 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001282626.1:c.48delC | NP_001269555.1:p.Ser17AlafsTer79 |
NM_170707.3:c.48delC | NP_733821.1:p.Ser17AlafsTer79 | |
NM_001282625.1:c.48delC | NP_001269554.1:p.Ser17AlafsTer79 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2015-01-20 | criteria provided, single submitter | not provided |
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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) | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_170707.4(LMNA):c.48del (p.Ser17fs) AND not provided | 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
- rs794726921 dbSNP
- Genome
- hg38
- Position
- chr1:156,114,966-156,114,966
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- -
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