chr1:156104287:G>A Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,104,287-156,104,287
hg38 chr1:156,134,496-156,134,496 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001282626.1:c.607G>A NP_001269555.1:p.Glu203Lys
NM_170707.3:c.607G>A NP_733821.1:p.Glu203Lys
NM_001257374.2:c.271G>A NP_001244303.1:p.Glu91Lys
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
not provided no assertion provided dilated cardiomyopathy 1A unknown Detail
Pathogenic 2021-12-22 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Likely pathogenic 2018-02-20 criteria provided, single submitter Primary dilated cardiomyopathy germline Detail
Pathogenic 2023-10-16 criteria provided, single submitter germline Detail
Pathogenic 2023-12-12 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
not provided no assertion provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,Mandibuloacral dysplasia with type A lipodystrophy,congenital muscular dystrophy due to LMNA mutation,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
not provided no assertion provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,Mandibuloacral dysplasia with type A lipodystrophy,congenital muscular dystrophy due to LMNA mutation,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
not provided no assertion provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,Mandibuloacral dysplasia with type A lipodystrophy,congenital muscular dystrophy due to LMNA mutation,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
not provided no assertion provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,Mandibuloacral dysplasia with type A lipodystrophy,congenital muscular dystrophy due to LMNA mutation,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
not provided no assertion provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,Mandibuloacral dysplasia with type A lipodystrophy,congenital muscular dystrophy due to LMNA mutation,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
not provided no assertion provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,Mandibuloacral dysplasia with type A lipodystrophy,congenital muscular dystrophy due to LMNA mutation,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
not provided no assertion provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,Mandibuloacral dysplasia with type A lipodystrophy,congenital muscular dystrophy due to LMNA mutation,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
not provided no assertion provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,Mandibuloacral dysplasia with type A lipodystrophy,congenital muscular dystrophy due to LMNA mutation,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.443 Cardiomyopathy, Familial Idiopathic Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduc... UNIPROT 11561226 Detail
0.443 Cardiomyopathy, Familial Idiopathic NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) AND Dilated cardiomyopathy 1A ClinVar Detail
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) AND Primary dilated cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) AND Cardiovascular phenotype ClinVar Detail
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) AND multiple conditions ClinVar Detail
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 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
rs61195471 dbSNP
Genome
hg19
Position
chr1:156,104,287-156,104,287
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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