chr1:156134910:C>G Detail (hg38) (LMNA)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.502C>G NP_001269553.1:p.Arg168Gly
NM_001282626.1:c.745C>G NP_001269555.1:p.Arg249Gly
NM_170707.3:c.745C>G NP_733821.1:p.Arg249Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
Likely pathogenic 2019-03-18 criteria provided, single submitter Laminopathy germline Detail
Likely pathogenic 2023-07-17 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>G (p.Arg249Gly) AND Laminopathy ClinVar Detail
NM_170707.4(LMNA):c.745C>G (p.Arg249Gly) 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
hg38
Position
chr1:156,134,910-156,134,910
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser