Variant #0000355550 (NC_000011.9:g.1954967G>A, TNNT3(NM_006757.3):c.188G>A)

Individual ID 00154913
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1954967G>A
DNA change (hg38) g.1933737G>A
Published as -
ISCN -
DB-ID TNNT3_000001 See all 12 reported entries
Variant remarks -
Reference PubMed: Beck 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TNNT3 NM_006757.3 +/. 10 c.188G>A r.(?) p.(Arg63His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155771 DNA SEQ - - TNNT3 1 Johan den Dunnen