chr1:156104701:C>T Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,104,701-156,104,701
hg38 chr1:156,134,910-156,134,910 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001282625.1:c.745C>T NP_001269554.1:p.Arg249Trp
NM_005572.3:c.745C>T NP_005563.1:p.Arg249Trp
NM_170707.3:c.745C>T NP_733821.1:p.Arg249Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Congenital muscular dystrophy germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2020-02-03 criteria provided, multiple submitters, no conflicts congenital muscular dystrophy due to LMNA mutation de novo germline unknown Detail
Pathogenic 2018-12-04 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic 2012-11-13 criteria provided, single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant germline Detail
Pathogenic 2023-12-22 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) NA CLINVAR Detail
0.447 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) AND Congenital muscular dystrophy due to LMNA mutation ClinVar Detail
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant ClinVar Detail
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) 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
rs121912496 dbSNP
Genome
hg19
Position
chr1:156,104,701-156,104,701
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser