Genomic variant #0000438440

Individual ID 00207521
Chromosome 13
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.52585454_52585455del
DNA change (hg38) -
Published as -
ISCN -
DB-ID ATP7B_000131 See all 2 reported entries
Variant remarks in vitro studies indicate circumvention of NMD through translation reinitiation
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00117 View details
Owner Gunnar Schmidt




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ATP7B NM_000053.3 -?/. - c.19_20del ACMG: 2 r.(?) p.(Pro2_Met33del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208560 DNA SEQ-NG-I peripheral blood - - 2 Gunnar Schmidt