Screening #0000033188

Individual ID 00033120
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
RHO rhodopsin 3 q21-q24 1 104 78 2019-07-24 CSNBAD-1, RP-4, fundus albipunctatus (retinitis punctata albescens (RPA))
RPGR retinitis pigmentosa GTPase regulator X p21.1 2 166 121 2019-07-24 CORDX-1, RP-3, XLRP, degeneration, macular, X-linked atrophic, retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness



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     
3 Parent #1 +?/. g.129249760C>T g.129530917C>T - - RHO_000001 predicted to affect function, but insufficient evidence for definite conclusion; potentially de novo PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling RHO - - - - - 2 NM_000539.3:c.403C>T - - r.(?) p.(Arg135Trp) - - - - - - - - - - - - - - - - - - -
X Parent #1 ?/. g.38147286_38147288del g.38288033_38288035del - - RPGR_000408 not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling RPGR - - - - - 14 NM_000328.2:c.1579_1581del - - r.(?) p.(Gln527del) - - - - - - - - - - - - - - - - - - -
Legend