Genomic variant #0000060536

Individual ID 00033091
Chromosome 9
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.32550912G>A
DNA change (hg38) g.32550914G>A
Published as -
ISCN -
DB-ID TOPORS_000002 See all 7 reported entries
Variant remarks not segregating with disease in other families
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01737 View details
Owner Kornelia Neveling




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TOPORS NM_005802.4 -/. 2 c.58C>T - r.(?) p.(Pro20Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033159 DNA SEQ;SEQ-NG-S - - CC2D2A, CRB1, RP2, SEMA4A, TOPORS 6 Kornelia Neveling