Genomic variant #0000440045

Individual ID 00208776
Chromosome 1
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.179883186C>T
DNA change (hg38) g.179914051C>T
Published as 961C>T (Arg321*)
ISCN -
DB-ID TOR1AIP1_000015
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 Ronen Spiegel
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TOR1AIP1 NM_001267578.1 +/. 9 c.964C>T r.(?) p.(Arg322*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209825 DNA;protein SEQ-NG-I - - TOR1AIP1 1 Ronen Spiegel