Variant #0000695474 (NC_000023.10:g.77165291dup, ATP7A(NM_000052.5):-)

Individual ID 00312405
Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.77165291dup
DNA change (hg38) -
Published as del -921A
ISCN -
DB-ID ATP7A_000269
Variant remarks -
Reference PubMed: Gu 2001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Zeynep Tümer
Database submission license No license selected
Created by Zeynep Tümer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
ATP7A NM_000052.5 -/-? _1 - r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000313577 DNA SEQ - - ATP7A 1 Zeynep Tümer