chr1:156104630:G>A Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,104,630-156,104,630
hg38 chr1:156,134,839-156,134,839 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.431G>A NP_001269553.1:p.Arg144Gln
NM_001282625.1:c.674G>A NP_001269554.1:p.Arg225Gln
NM_005572.3:c.674G>A NP_005563.1:p.Arg225Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM6701791 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant unknown Detail
Pathogenic 2012-04-01 no assertion criteria provided Emery-Dreifuss muscular dystrophy 3, autosomal recessive germline Detail
Uncertain significance 2021-06-17 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic 2023-11-17 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Conflicting interpretations of pathogenicity 2022-01-06 criteria provided, conflicting interpretations not provided germline Detail
Likely pathogenic 2021-07-10 criteria provided, single submitter germline Detail
Uncertain significance 2023-05-04 criteria provided, single submitter Primary dilated cardiomyopathy 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
0.121 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation... BeFree 22431096 Detail
0.018 muscular dystrophy The cross-referencing of these mutations in candidate genes for muscular dystrop... BeFree 22431096 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant ClinVar Detail
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND Emery-Dreifuss muscular dystrophy 3, autosomal recessiv... ClinVar Detail
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND Cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND Abnormality of the musculature ClinVar Detail
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND Primary dilated cardiomyopathy ClinVar Detail
NA DisGeNET Detail
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lami... DisGeNET Detail
The cross-referencing of these mutations in candidate genes for muscular dystrophy showed a homozygo... 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
rs199474724 dbSNP
Genome
hg19
Position
chr1:156,104,630-156,104,630
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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