Screening #0000033210

Individual ID 00033142
Template DNA
Technique SEQ;SEQ-NG-S
Tissue -
Remarks -
Variants found? 3
Owner name Kornelia Neveling


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit X p11.23 1 167 128 2019-07-28 AIED, CORDX-3, CSNB-2A
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 4 p16.3 1 191 145 2019-07-24 CSNBAD-2, RP-40



Variants found

3 entries on 1 page. Showing entries 1 - 3.
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     
4 Parent #2 +/. g.647908C>T g.654119C>T - - PDE6B_000015 - PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling PDE6B - - - - - 5 NM_000283.3:c.892C>T - - r.(?) p.(Gln298*) - - - - - - - - - - - - - - - - - - -
4 Parent #1 +/. g.647908C>T g.654119C>T - - PDE6B_000015 - PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling PDE6B - - - - - 5 NM_000283.3:c.892C>T - - r.(?) p.(Gln298*) - - - - - - - - - - - - - - - - - - -
X Parent #1 +?/. g.49082509G>C - - - CACNA1F_000009 predicted to affect function, but insufficient evidence for definite conclusion, disease-related variants in other gene; non-affected carrier father, not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling CACNA1F - - - - - 13 NM_005183.2:c.1546C>G - - r.(?) p.(Arg516Gly) - - - - - - - - - - - - - - - - - - -
Legend