chr1:156137210:C>T Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,107,001-156,107,001 View the variant detail on this assembly version.
hg38 chr1:156,137,210-156,137,210

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.1343C>T NP_001269553.1:p.Ala448Val
NM_001282626.1:c.1586C>T NP_001269555.1:p.Ala529Val
NM_170707.3:c.1586C>T NP_733821.1:p.Ala529Val
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 2005-09-01 no assertion criteria provided Mandibuloacral dysplasia with type A lipodystrophy germline Detail
not provided no assertion provided not provided not provided Detail
Uncertain significance 2021-12-21 criteria provided, single submitter germline Detail
Uncertain significance 2021-10-18 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type germline Detail
Likely pathogenic 2023-06-21 criteria provided, single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.485 Mandibuloacral dysostosis NA CLINVAR Detail
0.485 Mandibuloacral dysostosis A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacr... BeFree 15998779 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) AND Mandibuloacral dysplasia with type A lipodystrophy ClinVar Detail
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) AND Cardiovascular phenotype ClinVar Detail
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) AND Familial partial lipodystrophy, Dunnigan type ClinVar Detail
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominan... ClinVar Detail
NA DisGeNET Detail
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. 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
rs60580541 dbSNP
Genome
hg38
Position
chr1:156,137,210-156,137,210
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser