Genomic variant #0000001299

Individual ID 00000041
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77266947_77266948insAAGAT
DNA change (hg38) -
Published as -
ISCN -
DB-ID ATP7A_000004
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ATP7A NM_000052.4 ?/. - c.1948_1949insAAGAT - r.(?) p.(Trp650*)
ATP7A NM_000052.5 ./. - c.1948_1949insAAGAT - r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000041 DNA SEQ-NG - - ATP7A, ATP7B, DPYD, ETFB, IGHMBP2, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, PLP1, SERPINA1 14 LOVD-team, but with Curator vacancy