Screening #0000019890

Individual ID 00019897
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Marianne Vos (LOVD-team)


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
CEP170B centrosomal protein 170B 14 q32.33 1 6 6 2014-11-08 -



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.52536008G>A g.51961872G>A Asn637Asn - ATP7B_000005 - PubMed: Gilissen 2014 - - De novo - - - 0 - Marianne Vos (LOVD-team) ATP7B - - - - - 6 NM_000053.3:c.1911C>T - - r.(?) p.(Asn637=) - - - - - - - - - - - - - - - - - - -
14 Unknown -?/. g.105352391G>C g.104886054G>C Pro653Pro - CEP170B_000001 - PubMed: Gilissen 2014 - - De novo - - - 0 - Marianne Vos (LOVD-team) CEP170B - - - - - - NM_001112726.2:c.1959G>C - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
Legend