Genomic variant #0000001692

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.201333464G>T
Published as -
GERP 3.340
Segregation -
DB-ID TNNT2_000011
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
TNNT2 NM_000364.2 -?/-? c.451C>A p.(=) synonymous_variant - 11/17 - r.(=) -
TNNT2 NM_000364.3 -?/-? c.451C>A p.(=) synonymous_variant - 11/17 - r.(=) -


ClinVar @ MSeqDR

27453
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:C0949658,Orphanet:ORPHA155,SNOMED CT:83978005|MedGen:C1832243,OMIM:601494|MedGen:C1861864,OMIM:115195|MedGen:C2676271,OMIM:612422|MedGen:CN517202
Primary dilated cardiomyopathy|Cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Left ventricular noncompaction 6|Familial hypertrophic cardiomyopathy 2|Familial restrictive cardiomyopathy 3|not provided
HGVS variant names NC 000001.10:g.201333464G>A
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
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
SO:0001583|missense variant
1
dbSNP ID 74315379
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

0.00017
0.0006
52812
MedGen:CN169374
not specified
HGVS variant names NC 000001.10:g.201333464G>T
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. TNNT2:7139
SO:0001819|synonymous variant
1
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