Genomic variant #0000116936

Individual ID 00073146
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.52520508G>A
DNA change (hg38) g.51946372G>A
Published as -
ISCN -
DB-ID ATP7B_000007 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00187 View details
Owner Claire Guissart




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ATP7B NM_000053.3 +/. 13 c.2972C>T - r.(?) p.(Thr991Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073304 DNA SEQ;SEQ-NG-I - - ATP7B 2 Claire Guissart