View genomic variant #0000001604

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.156084963T>G
Published as -
GERP 4.770
Segregation -
DB-ID LMNA_000041
MSCV MSCV_0001604
dbSNP ID rs28933090
Frequency -
Sources ; clinvar;
Reference 10580070
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.
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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 0000001604 +/+ c.254T>G p.(Leu85Arg) missense_variant - 1/10 probably_damaging(0.999) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000225805;
Chromosome 1:156084963..156084963
ClinVar Allele ID 238146
Disease database name and identifier MedGen:CN043576
ClinVar preferred disease name Charcot-Marie-Tooth disease, type 2
HGVS variant names NC 000001.10:g.156084963T>A
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 28933090
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000015568; RCV000057381;
Chromosome 1:156084963..156084963
ClinVar Allele ID 29519
Disease database name and identifier MedGen:C1449563, OMIM:115200, Orphanet:ORPHA300751|MedGen:CN517202
ClinVar preferred disease name Dilated cardiomyopathy 1A|not provided
HGVS variant names NC 000001.10:g.156084963T>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:150330.0006|UniProtKB (protein):P02545#VAR 009975
Gene symbol:Gene id. LMNA:4000
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 28933090
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
rs289330901156084963156084963T/GOMIM phenotype variantsCARDIOMYOPATHY, DILATED, 1A
rs289330901156084963156084963T/GOMIM phenotype variantsCardiomyopathy dilated type 1A
rs289330901156084963156084963T/GOMIM phenotype variantsCardiomyopathy, dilated 1A
rs289330901156084963156084963T/GOMIM phenotype variantsDilated cardiomyopathy 1A
CM0669131156084963156084963HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CM9931781156084963156084963HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available