View genomic variant #0000001686

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type del
DNA change (genomic) (Relative to hg19 / GRCh37) g.201331099_201331101del
Published as -
GERP -
Segregation -
DB-ID TNNT2_000013
MSCV MSCV_0001686
dbSNP ID rs45578238
Frequency -
Sources ; clinvar;
Reference 11773635;15623536;18612386;20079745;23383212;23539503;12923187;15542288;11106718;11862580;{PMID
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
TNNT2 00003241 NM_000364.2 0000001686 +/+ c.650_652del p.(Lys217del) - - - - r.(?) -
TNNT2 00003346 NM_000364.3 0000001686 +/+ c.650_652del p.(Lys217del) - - - - r.(?) -
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ClinVar @ MSeqDR

RCVaccession RCV000201435;
Chromosome 1:201331098..201331098
ClinVar Allele ID 214102
Disease database name and identifier MedGen:C1861864, OMIM:115195
ClinVar preferred disease name Familial hypertrophic cardiomyopathy 2
HGVS variant names NC 000001.10:g.201331098A>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. TNNT2:7139
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 863225120
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000247384; RCV000524543; RCV000036607; RCV000211868; RCV000168972; RCV000223828;
Chromosome 1:201331099..201331101
ClinVar Allele ID 52828
Disease database name and identifier EFO:EFO 0000407, Human Phenotype Ontology:HP:0001644, MedGen:C0007193, Orphanet:ORPHA217604, SNOMED CT:195021004|MedGen:C0949658, Orphanet:ORPHA155, SNOMED CT:83978005|MedGen:C1832243, OMIM:601494|MedGen:C1861864, OMIM:115195|MedGen:CN230736|MedGen:CN517202
ClinVar preferred disease name Primary dilated cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Left ventricular noncompaction 6|Familial hypertrophic cardiomyopathy 2|Cardiovascular phenotype|not provided
HGVS variant names NC 000001.10:g.201331099 201331101delTCT
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Variant clinical sources reported CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario:340501|OMIM Allelic Variant:191045.0006
Gene symbol:Gene id. TNNT2:7139
Allele origin germline
dbSNP ID 45578238
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
CD0031061201331099201331099HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available