Genomic variant #0000597883

Individual ID 00265906
Chromosome 1
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.179851765del
DNA change (hg38) g.179882630del
Published as 179851763GC>G
ISCN -
DB-ID TOR1AIP1_000017
Variant remarks RNA allele imbalance
Reference PubMed: Cummings 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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 +/. - c.128del pathogenic (recessive) r.(?) p.(Pro43Leufs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000267026 DNA RT-PCR;SEQ;SEQ-NG - WES TOR1AIP1 2 Johan den Dunnen