Screening #0000107419

Individual ID 00106948
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name LOVD-team, but with Curator vacancy


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



Variants found

1 entry on 1 page. Showing entry 1.
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 Maternal (inferred) +/. g.100658894C>G g.101403906C>G - - GLA_000078 - PubMed: Davies 1996 - - Germline - - - 0 - LOVD-team, but with Curator vacancy GLA - - - - - 2 NM_000169.2:c.274G>C - - r.(?) p.(Asp92His) - - - - - - - - - - - - - - - - - - -
Legend