Screening #0000208416

Individual ID 00000032
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Pim Pijnappel


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
GAA glucosidase, alpha; acid 17 q25.2-q25.3 1 928 417 2019-03-23 GSD-2



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
17 Parent #2 g.78078403_78078410del - - - GAA_000358 - PubMed: Oba-Shinjo 2009 - - Germline - - - 0 - Pim Pijnappel GAA +/. - - - - - 2 NM_000152.3:c.18_25del - - r.(?) p.(Cys8Profs*24) - - - - - - - - - - - - - - - - - - - - - - -
17 Parent #1 g.78078503C>T - - - GAA_000056 - PubMed: Oba-Shinjo 2009 - - Germline - - - 0 - Pim Pijnappel GAA -/. - - - - - 2 NM_000152.3:c.136T>C - - r.(?) p.(Ser46Pro) - - - - - - - - - - - - - - - - - - - - - - -
Legend