chr1:156135913:G>A Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,105,704-156,105,704 View the variant detail on this assembly version.
hg38 chr1:156,135,913-156,135,913

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.706G>A NP_001269553.1:p.Glu236Lys
NM_001282626.1:c.949G>A NP_001269555.1:p.Glu317Lys
NM_170707.3:c.949G>A NP_733821.1:p.Glu317Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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
Likely pathogenic 2022-09-09 criteria provided, single submitter Primary dilated cardiomyopathy germline Detail
Pathogenic Likely pathogenic 2022-08-29 criteria provided, multiple submitters, no conflicts not provided germline not provided unknown Detail
Pathogenic 2024-01-18 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Likely pathogenic 2016-06-27 criteria provided, single submitter cardiomyopathy germline Detail
Likely pathogenic 2018-09-25 criteria provided, single submitter not specified germline Detail
Pathogenic 2023-10-02 criteria provided, single submitter Primary familial dilated cardiomyopathy germline Detail
Pathogenic 2022-04-22 criteria provided, single submitter dilated cardiomyopathy 1A germline Detail
Pathogenic 2023-08-10 criteria provided, single submitter germline Detail
Pathogenic 2023-10-18 criteria provided, single submitter LMNA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.443 Cardiomyopathy, Familial Idiopathic NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND Primary dilated cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND Cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND not specified ClinVar Detail
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND Primary familial dilated cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND Dilated cardiomyopathy 1A ClinVar Detail
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND Cardiovascular phenotype ClinVar Detail
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) AND LMNA-related disorder 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
rs56816490 dbSNP
Genome
hg38
Position
chr1:156,135,913-156,135,913
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser