chr1:156106998:C>A Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,106,998-156,106,998
hg38 chr1:156,137,207-156,137,207 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001257374.2:c.1247C>A NP_001244303.1:p.Thr416Lys
NM_170707.3:c.1583C>A NP_733821.1:p.Thr528Lys
NM_001282626.1:c.1583C>A NP_001269555.1:p.Thr528Lys
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
Pathogenic 2023-01-04 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Likely pathogenic 2015-06-26 criteria provided, single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant germline Detail
Likely pathogenic 2019-05-28 criteria provided, single submitter Hutchinson-Gilford syndrome unknown Detail
Pathogenic 2023-10-14 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.485 Mandibuloacral dysostosis NA CLINVAR Detail
0.447 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominan... ClinVar Detail
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) AND Hutchinson-Gilford syndrome ClinVar Detail
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NA 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
rs57629361 dbSNP
Genome
hg19
Position
chr1:156,106,998-156,106,998
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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