Genomic variant #0000001297

Individual ID 00000040
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.77244775_77244779del
DNA change (hg38) -
Published as chrX:77131431_77131435delATCTT
ISCN -
DB-ID ATP7A_000001
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.657_661del - r.(?) p.(Ile220Serfs*9)
ATP7A NM_000052.5 ./. - c.657_661del - r.(?) p.(Ile220Serfs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000040 DNA SEQ-NG - - ATP7A, DPYD, GLB1, LAMA2 4 LOVD-team, but with Curator vacancy