chr1:156105885:G>A Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,105,885-156,105,885
hg38 chr1:156,136,094-156,136,094 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001257374.2:c.794G>A NP_001244303.1:p.Arg265His
NM_001282626.1:c.1130G>A NP_001269555.1:p.Arg377His
NM_170707.3:c.1130G>A NP_733821.1:p.Arg377His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
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 COSM6425801 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic LGMD1B germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
Pathogenic 2020/01/17 dilated cardiomyopathy germline MGS000046
(TMGS000100) 		Fumihiko Matsuda The Rare Disease Data Registry of Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-08-25 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic 2013-02-08 criteria provided, single submitter muscular dystrophy germline Detail
Pathogenic 2024-01-03 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Pathogenic 2007-04-01 no assertion criteria provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant germline Detail
Pathogenic 2018-08-21 criteria provided, single submitter Sudden unexplained death germline Detail
Pathogenic 2020-10-16 criteria provided, single submitter germline Detail
Pathogenic 2023-06-01 criteria provided, single submitter dilated cardiomyopathy 1A germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.483 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) NA CLINVAR Detail
0.273 Muscular Dystrophy, Emery-Dreifuss We have studied the expression and the localization of nuclear envelope proteins... BeFree 15053843 Detail
0.443 Cardiomyopathy, Familial Idiopathic NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) AND Muscular dystrophy ClinVar Detail
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominan... ClinVar Detail
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) AND Sudden unexplained death ClinVar Detail
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) AND Cardiovascular phenotype ClinVar Detail
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) AND Dilated cardiomyopathy 1A ClinVar Detail
NA DisGeNET Detail
We have studied the expression and the localization of nuclear envelope proteins in three different ... DisGeNET 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
rs61672878 dbSNP
Genome
hg19
Position
chr1:156,105,885-156,105,885
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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