Variant #0000438427 (NC_000013.10:g.52585455_52585456del, ATP7B(NM_000053.3):c.19_20del)

Individual ID 00207500
Chromosome 13
Allele Both (homozygous)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.52585455_52585456del
DNA change (hg38) g.52011319_52011320del
Published as -
ISCN -
DB-ID ATP7B_000131 See all 3 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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208538 DNA SEQ-NG-I peripheral blood WES - 2 Gunnar Schmidt
0000208556 DNA SEQ peripheral blood - ATP7B 1 Gunnar Schmidt