View genomic variant #0000001692

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.201333464G>T
Published as -
GERP 3.340
Segregation -
DB-ID TNNT2_000011
MSCV MSCV_0001692
dbSNP ID rs74315379
Frequency -
Sources ; clinvar;
Reference 11684629;12923187;17932326;15623536;18349139;22675533;23539503;14654368;15769782
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 0000001692 -?/-? c.451C>A p.(=) synonymous_variant - 11/17 - r.(=) -
TNNT2 00003346 NM_000364.3 0000001692 -?/-? c.451C>A p.(=) synonymous_variant - 11/17 - r.(=) -
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ClinVar @ MSeqDR

RCVaccession RCV000211866; RCV000524542; RCV000524542; RCV000013225; RCV000524542; RCV000157537; RCV000159296;
Chromosome 1:201333464..201333464
ClinVar Allele ID 27453
Disease database name and identifier EFO:EFO 0000407, Human Phenotype Ontology:HP:0001644, MedGen:C0007193, Orphanet:ORPHA217604, SNOMED CT:195021004|Human Phenotype Ontology:HP:0001638, MedGen:C0878544, Orphanet:ORPHA167848, SNOMED CT:85898001|MedGen:C1832243, OMIM:601494|MedGen:C1861864, OMIM:115195|MedGen:C2676271, OMIM:612422|MedGen:CN517202
ClinVar preferred disease name Primary dilated cardiomyopathy|Cardiomyopathy|Left ventricular noncompaction 6|Familial hypertrophic cardiomyopathy 2|Familial restrictive cardiomyopathy 3|not provided
HGVS variant names NC 000001.10:g.201333464G>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario:1790586|OMIM Allelic Variant:191045.0007|UniProtKB (protein):P45379#VAR 016198
Gene symbol:Gene id. TNNT2:7139
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 74315379
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000036591;
Chromosome 1:201333464..201333464
Allele frequencies from ExAC 0.00017
Allele frequencies from TGP 0.0006
ClinVar Allele ID 52812
Disease database name and identifier MedGen:CN169374
ClinVar preferred disease name not specified
HGVS variant names NC 000001.10:g.201333464G>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. TNNT2:7139
Molecular consequence SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 74315379
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
rs743153791201333464201333464G/AOMIM phenotype variantsCARDIOMYOPATHY, DILATED, 1D
rs743153791201333464201333464G/AOMIM phenotype variantsLeft ventricular noncompaction 6
CM0134401201333464201333464HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available