Screening #0000073304

Individual ID 00073146
Template DNA
Technique SEQ;SEQ-NG-I
Tissue -
Remarks -
Variants found? 2
Owner name Claire Guissart


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 380 191 2019-07-05 Wilson



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     
13 Unknown +/. g.52520508G>A g.51946372G>A - - ATP7B_000007 - - - - Germline - - - 0 - Claire Guissart ATP7B - - - - - 13 NM_000053.3:c.2972C>T - - r.(?) p.(Thr991Met) - - - - - - - - - - - - - - - - - - -
13 Unknown -?/. g.52542667G>A g.51968531G>A - - ATP7B_000006 - - - - Germline - - - 0 - Claire Guissart ATP7B - - - - - 4 NM_000053.3:c.1620C>T - - r.(=) p.(Leu540=) - - - - - - - - - - - - - - - - - - -
Legend