Variant #0000697745 (NC_000011.9:g.1947940G>A, TNNT3(NM_006757.3):c.82+1G>A)

Individual ID 00314483
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1947940G>A
DNA change (hg38) g.1926710G>A
Published as -
ISCN -
DB-ID TNNT3_000018
Variant remarks combination of variants not reported
Reference PubMed: Topf 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/1001 cases
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 +?/. - c.82+1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000315656 DNA SEQ;SEQ-NG - WES TNNT3 1 Johan den Dunnen