Genomic variant #0000000384

Individual ID 00000006
Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.52513266T>C
DNA change (hg38) g.51939130T>C
Published as -
ISCN -
DB-ID ATP7B_000002 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.02372 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ATP7B NM_000053.3 ./. - c.3620A>G - r.(?) p.(His1207Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000006 DNA SEQ-NG - - ACADM, APTX, ATP7B, GALC, MTHFR, SERPINA1, SGSH, SLC26A2 9 LOVD-team, but with Curator vacancy