Variant #0000438833 (NC_000011.9:g.1946320G>A, TNNT3(NM_006757.3):c.50-9G>A)

Individual ID 00207797
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.1946320G>A
DNA change (hg38) g.1925090G>A
Published as -
ISCN -
DB-ID TNNT3_000016
Variant remarks ACMG grading: PM2,PP3; MaxEntScan and SSF imply weakening of physiological SA site; not functional data available
Reference -
ClinVar ID -
dbSNP ID rs776049768
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TNNT3 NM_006757.3 ?/. - c.50-9G>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208838 DNA SEQ-NG - - - 4 Andreas Laner