View genomic variant #0000001604

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.156084963T>G
Published as -
GERP 4.770
Segregation -
DB-ID LMNA_000041
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
LMNA NM_170707.3 +/+ c.254T>G p.(Leu85Arg) missense_variant - 1/10 probably_damaging(0.999) r.(?) deleterious(0)


ClinVar @ MSeqDR

238146
MedGen:CN043576
Charcot-Marie-Tooth disease, type 2
HGVS variant names NC 000001.10:g.156084963T>A
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. LMNA:4000
SO:0001583|missense variant
1
dbSNP ID 28933090
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

29519
MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751|MedGen:CN517202
Dilated cardiomyopathy 1A|not provided
HGVS variant names NC 000001.10:g.156084963T>G
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:150330.0006,UniProtKB (protein):P02545#VAR 009975
Gene symbol:Gene id. LMNA:4000
SO:0001583|missense variant
1
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