chr1:156137033:G>C Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,106,824-156,106,824 View the variant detail on this assembly version.
hg38 chr1:156,137,033-156,137,033

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.1245+5G>C
NM_001282626.1:c.1488+5G>C
NM_170707.3:c.1488+5G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 2016-10-03 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type germline Detail
not provided no assertion provided not provided not provided Detail
Uncertain significance 2023-12-28 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 Familial Partial Lipodystrophy, Type 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1488+5G>C AND Familial partial lipodystrophy, Dunnigan type ClinVar Detail
NM_170707.4(LMNA):c.1488+5G>C AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1488+5G>C AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs267607543 dbSNP
Genome
hg38
Position
chr1:156,137,033-156,137,033
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser