View genomic variant #0000001698

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.201334738A>C
Published as -
GERP -3.620
Segregation -
DB-ID TNNT2_000005
MSCV MSCV_0001698
dbSNP ID rs397516454
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

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 0000001698 +?/+? c.294T>G p.(Asp98Glu) missense_variant,splice_region_variant - 9/17 - r.(?) -
TNNT2 00003346 NM_000364.3 0000001698 +?/+? c.294T>G p.(Asp98Glu) missense_variant,splice_region_variant - 9/17 - r.(?) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000036570;
Chromosome 1:201334738..201334738
ClinVar Allele ID 52794
Disease database name and identifier EFO:EFO 0000407, Human Phenotype Ontology:HP:0001644, MedGen:C0007193, Orphanet:ORPHA217604, SNOMED CT:195021004
ClinVar preferred disease name Primary dilated cardiomyopathy
HGVS variant names NC 000001.10:g.201334738A>C
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 397516454
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