Individual #00033125

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
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     
0000026554 early onset; mild intellectual disability, obesitas - - Unknown 5y - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033193 DNA SEQ;SEQ-NG-S - - C2orf71, SEMA4A, SNRNP200 4 Kornelia Neveling



Variants

4 entries on 1 page. Showing entries 1 - 4.
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 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling SEMA4A - - - - - 15 NM_001193301.1:c.2138G>A - - r.(?) p.(Arg713Gln) - - - - - - - - - - - - - - - - - - -
2 Parent #1 -/. g.29294528G>A g.29071662G>A - - C2orf71_000006 predicted benign PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling C2orf71 - - - - - 1 NM_001029883.2:c.2600C>T - - r.(?) p.(Pro867Leu) - - - - - - - - - - - - - - - - - - -
2 Parent #1 ?/. g.96950323C>T g.96284585C>T - - SNRNP200_000003 - PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling SNRNP200 - - - - - 31 NM_014014.4:c.4165G>A - - r.(spl?) p.(Val1389Ile) - - - - - - - - - - - - - - - - - - -
2 Parent #2 ?/. g.96950323C>T g.96284585C>T - - SNRNP200_000003 - PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling SNRNP200 - - - - - 31 NM_014014.4:c.4165G>A - - r.(spl?) p.(Val1389Ile) - - - - - - - - - - - - - - - - - - -
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