Screening #0000033101

Individual ID 00033033
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
RP1 retinitis pigmentosa 1 (autosomal dominant) 8 q12.1 1 415 220 2019-07-24 RP-1



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     
8 Parent #1 -/. g.55541450G>A g.54628890G>A 5009G>A - RP1_000088 - PubMed: Payne 2000 - - Germline - 93/266 cases - 0 - Johan den Dunnen RP1 - - - - - 4 NM_006269.1:c.5008G>A - - r.(?) p.(Ala1670Thr) - - - - - - - - - - - - - - - - - - -
8 Parent #1 -/. g.55541513T>C g.54628953T>C 5070T>C - RP1_000089 - PubMed: Payne 2000 - - Germline - 93/266 cases - 0 - Johan den Dunnen RP1 - - - - - 4 NM_006269.1:c.5071T>C - - r.(?) p.(Ser1691Pro) - - - - - - - - - - - - - - - - - - -
Legend