View genomic variant #0000001600

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.156084725C>T
Published as -
GERP 4.810
Segregation -
DB-ID LMNA_000037
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
LMNA NM_170707.3 +/+ c.16C>T p.(Gln6*) stop_gained - 1/10 - r.(?) -


ClinVar @ MSeqDR

29516
MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:195021004|MedGen:C0410190,OMIM:181350,Orphanet:ORPHA98853,SNOMED CT:240072005|MedGen:CN517202
Primary dilated cardiomyopathy|Benign scapuloperoneal muscular dystrophy with cardiomyopathy|not provided
HGVS variant names NC 000001.10:g.156084725C>T
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:150330.0001
Gene symbol:Gene id. LMNA:4000
SO:0001587|nonsense
1
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