Genomic variant #0000169198

Individual ID 00103987
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.179851823del
DNA change (hg38) g.179882688del
Published as 186delG
ISCN -
DB-ID TOR1AIP1_000003
Variant remarks genome-wide homozygosity mapping; not in 308 control chromosomes
Reference PubMed: Kayman-Kurekci 2014, Journal: Kayman-Kurekci 2014, OMIM:var0001
ClinVar ID -
dbSNP ID rs879255612
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TOR1AIP1 NM_001267578.1 +/. 1 c.186del - r.(?) p.(Glu62Aspfs*26)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104456 DNA SEQ;SEQ-NG - - TOR1AIP1 1 Johan den Dunnen