Genomic variant #0000439714

Individual ID 00208515
Chromosome 13
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.52534306_52534308del
DNA change (hg38) -
Published as 2097_2099delCTT
ISCN -
DB-ID ATP7B_000138
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Donghu Zhou




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ATP7B NM_000053.3 +?/. - c.2097_2099del - r.(?) p.(Phe700del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209563 DNA SEQ - - ATP7B 1 Donghu Zhou