chr1:156134976:G>C Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,104,767-156,104,767 View the variant detail on this assembly version.
hg38 chr1:156,134,976-156,134,976

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.567+1G>C
NM_001282626.1:c.810+1G>C
NM_170707.3:c.810+1G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 2014-07-29 criteria provided, single submitter congenital muscular dystrophy due to LMNA mutation,Emery-Dreifuss muscular dystrophy 2, autosomal dominant de novo Detail
Pathogenic 2014-07-29 criteria provided, single submitter congenital muscular dystrophy due to LMNA mutation,Emery-Dreifuss muscular dystrophy 2, autosomal dominant de novo 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
0.483 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.810+1G>C AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.810+1G>C AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs267607632 dbSNP
Genome
hg38
Position
chr1:156,134,976-156,134,976
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser