Screening #0000033207

Individual ID 00033139
Template DNA
Technique SEQ;SEQ-NG-S
Tissue -
Remarks -
Variants found? 1
Owner name Kornelia Neveling


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 17 p13.1 1 126 92 2019-07-12 CORD-6, LCA-1



Variants found

1 entry on 1 page. Showing entry 1.
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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     
17 Parent #1 +?/. g.7912879C>T g.8009561C>T - - GUCY2D_000003 predicted to affect function but present at significant fraction in Exome Variant Server; segregates in family PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling GUCY2D - - - - - 8 NM_000180.3:c.1724C>T - - r.(?) p.(Pro575Leu) - - - - - - - - - - - - - - - - - - -
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