View genomic variant #0000001606

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.156084975G>T
Published as -
GERP 3.870
Segregation -
DB-ID LMNA_000043
MSCV MSCV_0001606
dbSNP ID rs59040894
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 0000001606 +?/+? c.266G>T p.(Arg89Leu) missense_variant - 1/10 probably_damaging(1) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000041342;
Chromosome 1:156084975..156084975
ClinVar Allele ID 57223
Disease database name and identifier MedGen:CN169374
ClinVar preferred disease name not specified
HGVS variant names NC 000001.10:g.156084975G>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 59040894
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000462640; RCV000057383;
Chromosome 1:156084975..156084975
ClinVar Allele ID 77781
Disease database name and identifier MedGen:CN043576|MedGen:CN517202
ClinVar preferred disease name Charcot-Marie-Tooth disease, type 2|not provided
HGVS variant names NC 000001.10:g.156084975G>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 UniProtKB (protein):P02545#VAR 039758
Gene symbol:Gene id. LMNA:4000
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 59040894
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
rs590408941156084975156084975G/TUniprot phenotype variantsCardiomyopathy dilated type 1A
rs590408941156084975156084975G/TUniprot phenotype variantsCardiomyopathy, dilated 1A
CM0330861156084975156084975HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available