View genomic variant #0000001602

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.156084863C>G
Published as -
GERP 4.770
Segregation -
DB-ID LMNA_000039
MSCV MSCV_0001602
dbSNP ID rs397517895
Frequency -
Sources ; clinvar;
Reference -
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 0000001602 +?/+? c.154C>G p.(Leu52Val) missense_variant - 1/10 probably_damaging(0.99) r.(?) deleterious(0.01)
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ClinVar @ MSeqDR

RCVaccession RCV000041321;
Chromosome 1:156084863..156084863
ClinVar Allele ID 57206
Disease database name and identifier EFO:EFO 0000407, Human Phenotype Ontology:HP:0001644, MedGen:C0007193, Orphanet:ORPHA217604, SNOMED CT:195021004
ClinVar preferred disease name Primary dilated cardiomyopathy
HGVS variant names NC 000001.10:g.156084863C>G
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
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 397517895
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None