chr1:156137653:G>C Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,107,444-156,107,444 View the variant detail on this assembly version.
hg38 chr1:156,137,653-156,137,653

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.1366-1G>C
NM_001282626.1:c.1609-1G>C
NM_170707.3:c.1609-1G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.443 Cardiomyopathy, Familial Idiopathic NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs111569862 dbSNP
Genome
hg38
Position
chr1:156,137,653-156,137,653
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser