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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 150330 OMIM
HGNC 6636 HGNC
Ensembl ENSG00000160789 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-01-20 criteria provided, single submitter not provided germline 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

DescrptionSourceLinks
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
-
Genome browser