Genomic variant #0000169190

Individual ID 00103978
Chromosome 1
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.179883167_179883170del
DNA change (hg38) g.179914032_179914035del
Published as 943_946del
ISCN -
DB-ID TOR1AIP1_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Davor Lessel
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TOR1AIP1 NM_001267578.1 +/. 9 c.945_948del r.(?) p.(Gln315Hisfs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104447 DNA SEQ-NG-I whole blood - TOR1AIP1 2 Davor Lessel