View genomic variant #0000001693

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.201333469C>T
Published as -
GERP 4.280
Segregation -
DB-ID TNNT2_000007
MSCV MSCV_0001693
dbSNP ID rs397516466
Frequency -
Sources ; clinvar;
Reference 20973921
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.
Legend  

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 0000001693 +?/+? c.446G>A p.(Arg149His) missense_variant - 11/17 - r.(?) -
TNNT2 00003346 NM_000364.3 0000001693 +?/+? c.446G>A p.(Arg149His) missense_variant - 11/17 - r.(?) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000527920; RCV000527920; RCV000527920; RCV000159295; RCV000036590;
Chromosome 1:201333469..201333469
ClinVar Allele ID 52811
Disease database name and identifier MedGen:C1832243, OMIM:601494|MedGen:C1861864, OMIM:115195|MedGen:C2676271, OMIM:612422|MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name Left ventricular noncompaction 6|Familial hypertrophic cardiomyopathy 2|Familial restrictive cardiomyopathy 3|not specified|not provided
HGVS variant names NC 000001.10:g.201333469C>T
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely pathogenic(1), Uncertain significance(2)
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 397516466
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