View genomic variant #0000001603

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.156084887C>G
Published as -
GERP 3.870
Segregation -
DB-ID LMNA_000040
MSCV MSCV_0001603
dbSNP ID rs28928900
Frequency -
Sources ; clinvar;
Reference 12196663;10580070;19768759;23427149;20041886
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
LMNA 00003231 NM_170707.3 0000001603 +/+ c.178C>G p.(Arg60Gly) missense_variant - 1/10 benign(0.168) r.(?) tolerated(0.19)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000015566; RCV000015567; RCV000057359;
Chromosome 1:156084887..156084887
ClinVar Allele ID 29518
Disease database name and identifier MedGen:C1449563, OMIM:115200, Orphanet:ORPHA300751|MedGen:C1720860, OMIM:151660, Orphanet:ORPHA2348|MedGen:CN517202
ClinVar preferred disease name Dilated cardiomyopathy 1A|Familial partial lipodystrophy 2|not provided
HGVS variant names NC 000001.10:g.156084887C>G
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:150330.0005|UniProtKB (protein):P02545#VAR 034706
Gene symbol:Gene id. LMNA:4000
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 28928900
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000156772;
Chromosome 1:156084887..156084887
ClinVar Allele ID 172341
Disease database name and identifier MedGen:CN169374
ClinVar preferred disease name not specified
HGVS variant names NC 000001.10:g.156084887C>T
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. LMNA:4000
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 28928900
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs289289001156084887156084887C/GOMIM phenotype variantsCARDIOMYOPATHY, DILATED, 1A
rs289289001156084887156084887C/GOMIM phenotype variantsCardiomyopathy dilated type 1A
rs289289001156084887156084887C/GOMIM phenotype variantsFamilial partial lipodystrophy type 2
rs289289001156084887156084887C/GOMIM phenotype variantsCardiomyopathy, dilated 1A
rs289289001156084887156084887C/GOMIM phenotype variantsLipodystrophy, familial partial, 2
rs289289001156084887156084887C/GOMIM phenotype variantsDilated cardiomyopathy 1A
rs289289001156084887156084887C/GOMIM phenotype variantsLIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
CM9931771156084887156084887HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available