Screening #0000107350

Individual ID 00106879
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Amelia Morrone


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
GLA galactosidase, alpha X q21.3-q22 1 771 702 2019-03-03 Fabry



Variants found

1 entry on 1 page. Showing entry 1.
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     
X Maternal (confirmed) g.100652922_100652924delGGA g.101397934_101397936del 1163_1165delTCC - GLA_000657 - - - - De novo - - - 0 - Amelia Morrone GLA +/. - - - - - 7 NM_000169.2:c.1163_1165del - - r.(?) p.(Leu388del) - - - - - - - - - - - - - - - - - - - - - - -
Legend