Individual #00033109

ID_report -
Reference PubMed: Neveling 2012
Remarks -
Gender F
Consanguinity no
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases RP
Owner name Kornelia Neveling


Phenotypes

retinitis pigmentosa (RP) (RP)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000026538 - - - Unknown - - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033177 DNA SEQ;SEQ-NG-S - - CACNA1F, EYS, GUCA1B, PDE6B 4 Kornelia Neveling



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     
4 Parent #1 +?/. g.650084A>G g.656295A>G - - PDE6B_000003 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 PDE6B - - - - - 8i NM_000283.3:c.1107+3A>G - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
6 Parent #1 -/. g.42153410C>T g.42185672C>T - - GUCA1B_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling GUCA1B - - - - - 3i NM_002098.5:c.475+8G>A - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
6 Parent #1 -/- g.65016978_65016979del g.64307085_64307086del 6045-4_6045-3del - EYS_000004 predicted benign PubMed: Neveling 2012 - - Germline yes ExAC: 9866, 18292, 921, 0.5394 - 0 - Kornelia Neveling EYS - - - - - 29i NM_001142800.1:c.6079-4_6079-3del - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
X Parent #1 -/. g.49082499C>T - - - CACNA1F_000001 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling CACNA1F - - - - - 13 NM_005183.2:c.1556G>A - - r.(?) p.(Arg519Gln) - - - - - - - - - - - - - - - - - - -
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