chr1:156137203:C>T Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,106,994-156,106,994 View the variant detail on this assembly version.
hg38 chr1:156,137,203-156,137,203

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.1336C>T NP_001269553.1:p.Arg446Cys
NM_001282626.1:c.1579C>T NP_001269555.1:p.Arg527Cys
NM_170707.3:c.1579C>T NP_733821.1:p.Arg527Cys
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
Pathogenic 2003-01-01 no assertion criteria provided Mandibuloacral dysplasia with type A lipodystrophy germline Detail
Pathogenic 2015-11-16 criteria provided, single submitter not provided germline not provided Detail
not provided no assertion provided Hutchinson-Gilford syndrome germline Detail
Uncertain significance 2023-04-28 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic 2023-06-14 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Pathogenic Likely pathogenic 2024-03-17 criteria provided, multiple submitters, no conflicts congenital muscular dystrophy due to LMNA mutation germline Detail
Pathogenic 2023-06-01 criteria provided, single submitter dilated cardiomyopathy 1A germline Detail
Uncertain significance 2023-08-15 criteria provided, single submitter Primary dilated cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.485 Mandibuloacral dysostosis NA CLINVAR Detail
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
0.627 progeria Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome:... BeFree 19432833 Detail
0.627 progeria NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) AND Mandibuloacral dysplasia with type A lipodystrophy ClinVar Detail
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) AND Hutchinson-Gilford syndrome ClinVar Detail
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) AND Cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) AND Congenital muscular dystrophy due to LMNA mutation ClinVar Detail
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) AND Dilated cardiomyopathy 1A ClinVar Detail
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) AND Primary dilated cardiomyopathy ClinVar Detail
NA DisGeNET 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
Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autoso... 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
rs57318642 dbSNP
Genome
hg38
Position
chr1:156,137,203-156,137,203
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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