chr1:156136951:C>G Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,106,742-156,106,742 View the variant detail on this assembly version.
hg38 chr1:156,136,951-156,136,951

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.1168C>G NP_001269553.1:p.Arg390Gly
NM_001282626.1:c.1411C>G NP_001269555.1:p.Arg471Gly
NM_170707.3:c.1411C>G NP_733821.1:p.Arg471Gly
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-10-18 criteria provided, single submitter not provided germline not provided Detail
Likely pathogenic 2022-05-13 criteria provided, single submitter germline Detail
Likely pathogenic 2022-07-08 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.130 Charcot-Marie-Tooth disease NA CLINVAR Detail
0.627 progeria The inner nuclear membrane protein emerin was mislocalised upon expression of th... BeFree 16772334 Detail
0.006 muscular dystrophy The inner nuclear membrane protein emerin was mislocalised upon expression of th... BeFree 16772334 Detail
0.008 Acquired partial lipodystrophy We report on a novel LMNA mutation (p.R471G) in a proband affected by a syndrome... BeFree 18041775 Detail
0.627 progeria LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann... UNIPROT 12768443 Detail
0.004 Contracture We report on a novel LMNA mutation (p.R471G) in a proband affected by a syndrome... BeFree 18041775 Detail
0.157 familial partial lipodystrophy The heterozygous LMNA mutation p.R471G causes a variable phenotype with features... BeFree 18041775 Detail
0.485 Mandibuloacral dysostosis Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral... BeFree 18348272 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly) AND Cardiovascular phenotype ClinVar Detail
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NA DisGeNET Detail
The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy... DisGeNET Detail
The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy... DisGeNET Detail
We report on a novel LMNA mutation (p.R471G) in a proband affected by a syndrome comprising partial ... DisGeNET Detail
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch proge... DisGeNET Detail
We report on a novel LMNA mutation (p.R471G) in a proband affected by a syndrome comprising partial ... DisGeNET Detail
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of fam... DisGeNET Detail
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria... 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
rs28928902 dbSNP
Genome
hg38
Position
chr1:156,136,951-156,136,951
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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