Variant #0000222864 (NC_000011.9:g.1956150G>A, TNNT3(NM_006757.3):c.681+1G>A)

Individual ID 00132791
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.1956150G>A
DNA change (hg38) g.1934920G>A
Published as -
ISCN -
DB-ID TNNT3_000011
Variant remarks effect on splicing reported generating transcripts with exon 14 skipping (ex13-15 and ex13-15b) and intron 14 retention
Reference PubMed: Sandaradura 2018, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 1.0E-5 View details
Owner Mark Davis
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TNNT3 NM_006757.3 +/. 14i c.681+1G>A r.[591_681del,681_682ins[a;681+1_682-1],681_682ins[a;681+1_?]] p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000133625 DNA SEQ-NG - Custom neuromuscular gene panel - 1 Mark Davis