Genomic variant #0000001603

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.156084887C>G
Published as -
GERP 3.870
Segregation -
DB-ID LMNA_000040
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

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


ClinVar @ MSeqDR

29518
MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751|MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348|MedGen:CN517202
Dilated cardiomyopathy 1A|Familial partial lipodystrophy 2|not provided
HGVS variant names NC 000001.10:g.156084887C>G
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:150330.0005|UniProtKB (protein):P02545#VAR 034706
Gene symbol:Gene id. LMNA:4000
SO:0001583|missense variant
1
dbSNP ID 28928900
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

172341
MedGen:CN169374
not specified
HGVS variant names NC 000001.10:g.156084887C>T
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. LMNA:4000
SO:0001583|missense variant
1
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