Variant #0000604225 (NC_000003.11:g.133489289del, TF(NM_001063.3):c.1623-63del)

Individual ID 00269324
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.133489289del
DNA change (hg38) g.133770445del
Published as 293-63del
ISCN -
DB-ID TF_000012
Variant remarks in silico analysis indicate that this deletion is predicted to generate a higher score cryptic branch point leading to the production of an altered mRNA molecule
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Yessine Amri
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TF NM_001063.3 +?/? 13i c.1623-63del r.spl? p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000270456 DNA SEQ - - TF 1 Yessine Amri