Screening #0000088299

Individual ID 00088159
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
GLA galactosidase, alpha X q21.3-q22 1 818 725 2019-03-03 Fabry
LAMP2 lysosomal-associated membrane protein 2 X q24-q25 2 227 141 2019-07-28 Danon;GSD-2B, ID



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     
X Unknown -/. g.100653420C>A g.101398432C>A - - GLA_000001 - - - - Germline - - - 0 - Johan den Dunnen GLA - - - - - - NM_000169.2:c.937G>T - - r.(?) p.(Asp313Tyr) - - - - - - - - - - - - - - - - - - -
X Maternal (confirmed) +/. g.119581721delA g.120447866delA - - LAMP2_000015 not in 101 chromosomes PubMed: Sabourdy 2009, Journal: Sabourdy 2009 - - Germline - - - 0 - Johan den Dunnen LAMP2 - - - - - 5 NM_001122606.1:c.716delT, NM_013995.2:c.716delT - - r.(?) p.(Leu239Argfs*3) - - - - - - - - - - - - - - - - - - -
Legend