Screening #0000208460

Individual ID 00207423
Template DNA
Technique SEQ-NG-I
Tissue -
Remarks -
Variants found? 1
Owner name Sze Chern Lim


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     
19 Unknown +/+ g.7696362C>T - - - PET100_000002 - PubMed: Oláhová 2015 ClinVar-128250 rs587779779 Germline yes - - 0 - Sze Chern Lim PET100 - - - - - 4 NM_001171155.1:c.142C>T - - r.(?) p.Gln48* - - - - - - - - - - - - - - - - - - -
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