Screening #0000033160

Individual ID 00033092
Template DNA
Technique SEQ;SEQ-NG-S
Tissue -
Remarks -
Variants found? 2
Owner name Kornelia Neveling


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CRB1 crumbs homolog 1 (Drosophila) 1 q31-q32.1 1 1151 310 2019-09-30 LCA-8, PPCRA, RP-12
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 9 p21 1 56 42 2019-07-24 RP-31



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
1 Parent #1 -/. g.197237556A>G g.197268426A>G - - CRB1_000032 - PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling CRB1 - - - - - 1 NM_201253.2:c.14A>G - - r.(?) p.(Asn5Ser) - - - - - - - - - - - - - - - - - - -
9 Parent #1 -/. g.32550912G>A g.32550914G>A - - TOPORS_000002 not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling TOPORS - - - - - 2 NM_005802.4:c.58C>T - - r.(?) p.(Pro20Ser) - - - - - - - - - - - - - - - - - - -
Legend