View genomic variant #0000001600

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.156084725C>T
Published as -
GERP 4.810
Segregation -
DB-ID LMNA_000037
MSCV MSCV_0001600
dbSNP ID rs61046466
Frequency -
Sources ; clinvar;
Reference 10080180;11138304;20301717
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 0000001600 +/+ c.16C>T p.(Gln6*) stop_gained - 1/10 - r.(?) -
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ClinVar @ MSeqDR

RCVaccession RCV000015564; RCV000041328; RCV000057350;
Chromosome 1:156084725..156084725
ClinVar Allele ID 29516
Disease database name and identifier EFO:EFO 0000407, Human Phenotype Ontology:HP:0001644, MedGen:C0007193, Orphanet:ORPHA217604, SNOMED CT:195021004|MedGen:C0410190, OMIM:181350, Orphanet:ORPHA98853, SNOMED CT:240072005|MedGen:CN517202
ClinVar preferred disease name Primary dilated cardiomyopathy|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|not provided
HGVS variant names NC 000001.10:g.156084725C>T
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:150330.0001
Gene symbol:Gene id. LMNA:4000
Molecular consequence SO:0001587|nonsense
Allele origin germline
dbSNP ID 61046466
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
rs610464661156084725156084725C/TOMIM phenotype variantsEMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
rs610464661156084725156084725C/TOMIM phenotype variantsBenign scapuloperoneal muscular dystrophy with cardiomyopathy
rs610464661156084725156084725C/TOMIM phenotype variantsPrimary dilated cardiomyopathy
CM9908121156084725156084725HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available