Screening #0000033159

Individual ID 00033091
Template DNA
Technique SEQ;SEQ-NG-S
Tissue -
Remarks -
Variants found? 6
Owner name Kornelia Neveling


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CC2D2A coiled-coil and C2 domain containing 2A 4 p15.33 1 225 154 2019-02-23 COACH, ID, JBTS-9, MKS-6
CRB1 crumbs homolog 1 (Drosophila) 1 q31-q32.1 1 1151 310 2019-09-30 LCA-8, PPCRA, RP-12
RP2 retinitis pigmentosa 2 (X-linked recessive) X p11.3 1 74 50 2019-07-24 RP-2, XLRP
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 1 q22 1 73 44 2019-07-24 CORD-10, RP-35
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 9 p21 1 56 42 2019-07-24 RP-31



Variants found

6 entries on 1 page. Showing entries 1 - 6.
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.156146640G>A g.156176849G>A - - SEMA4A_000002 not segregating with disease in other families PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling SEMA4A - - - - - 15 NM_001193301.1:c.2138G>A - - r.(?) p.(Arg713Gln) - - - - - - - - - - - - - - - - - - -
1 Parent #1 +?/. g.197298095T>C g.197328965T>C - - CRB1_000002 considered benign for patient (only 1 case of dominant inheritance reported for predicted potentially pathogenic variant); does not segregate with disease PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling CRB1 - - - - - 2 NM_201253.2:c.614T>C - - r.(?) p.(Ile205Thr) - - - - - - - - - - - - - - - - - - -
4 Parent #1 ?/. g.15513014_15513016del g.15511391_15511393del - - CC2D2A_000002 - PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling CC2D2A - - - - - 9 NM_001080522.2:c.685_687del - - r.(?) p.(Glu229del) - - - - - - - - - - - - - - - - - - -
4 Parent #2 +?/. g.15539567G>A g.15537944G>A - - CC2D2A_000001 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling CC2D2A - - - - - 17 NM_001080522.2:c.1810G>A - - r.(?) p.(Gly604Ser) - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - -
X Parent #1 -/. g.46719498C>T g.46860063C>T - - RP2_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling RP2 - - - - - 3 NM_006915.2:c.844C>T - - r.(?) p.(Arg282Trp) - - - - - - - - - - - - - - - - - - -
Legend