chr1:156106710:A>G Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,106,710-156,106,710
hg38 chr1:156,136,919-156,136,919 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_170707.3:c.1381-2A>G
NM_001257374.2:c.1045-2A>G
NM_001282626.1:c.1381-2A>G
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 2011-06-14 no assertion criteria provided congenital muscular dystrophy due to LMNA mutation germline Detail
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1381-2A>G AND Congenital muscular dystrophy due to LMNA mutation ClinVar Detail
NM_170707.4(LMNA):c.1381-2A>G AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs267607600 dbSNP
Genome
hg19
Position
chr1:156,106,710-156,106,710
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser