chr1:156106995:G>C Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,106,995-156,106,995
hg38 chr1:156,137,204-156,137,204 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001282626.1:c.1580G>C NP_001269555.1:p.Arg527Pro
NM_001257374.2:c.1244G>C NP_001244303.1:p.Arg415Pro
NM_001282624.1:c.1337G>C NP_001269553.1:p.Arg446Pro
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic EDMD2 germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2009-01-01 no assertion criteria provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant germline Detail
Pathogenic criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type germline Detail
not provided no assertion provided not provided not provided Detail
Pathogenic 2023-07-10 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Pathogenic 2021-02-26 criteria provided, single submitter Primary dilated cardiomyopathy somatic Detail
Pathogenic 2023-10-16 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 Familial Partial Lipodystrophy, Type 2 NA CLINVAR Detail
0.627 progeria The mutant constructs used included the laminopathy-inducing lamin A rod domain ... BeFree 16440304 Detail
0.485 Mandibuloacral dysostosis NA CLINVAR Detail
0.447 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) NA CLINVAR Detail
0.273 Muscular Dystrophy, Emery-Dreifuss NA CLINVAR Detail
0.008 Acquired partial lipodystrophy A homozygous missense mutation, Arg527His, in the LMNA gene which encodes nuclea... BeFree 12913070 Detail
0.008 Acquired partial lipodystrophy Recently, affected patients from five consanguineous Italian pedigrees with part... BeFree 12788894 Detail
0.485 Mandibuloacral dysostosis Analysis of the effect of the prevalent MAD mutation (R527H) over the transcript... BeFree 15473259 Detail
0.026 lipodystrophy Affected patients from two pedigrees with type A lipodystrophy had the homozygou... BeFree 12788894 Detail
0.485 Mandibuloacral dysostosis Mandibuloacral dysplasia type A (MADA; OMIM # 248370) is a premature ageing dise... BeFree 18604166 Detail
0.020 Premature aging syndrome Mandibuloacral dysplasia type A (MADA; OMIM # 248370) is a premature ageing dise... BeFree 18604166 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominan... ClinVar Detail
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) AND Familial partial lipodystrophy, Dunnigan type ClinVar Detail
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) AND Primary dilated cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) AND Cardiovascular phenotype ClinVar Detail
NA DisGeNET Detail
The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A homozygous missense mutation, Arg527His, in the LMNA gene which encodes nuclear lamina proteins la... DisGeNET Detail
Recently, affected patients from five consanguineous Italian pedigrees with partial lipodystrophy (t... DisGeNET Detail
Analysis of the effect of the prevalent MAD mutation (R527H) over the transcriptional pattern of gen... DisGeNET Detail
Affected patients from two pedigrees with type A lipodystrophy had the homozygous R527H mutation in ... DisGeNET Detail
Mandibuloacral dysplasia type A (MADA; OMIM # 248370) is a premature ageing disease caused by the ho... DisGeNET Detail
Mandibuloacral dysplasia type A (MADA; OMIM # 248370) is a premature ageing disease caused by the ho... 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
rs57520892 dbSNP
Genome
hg19
Position
chr1:156,106,995-156,106,995
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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