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
Date created 2011-09-02 20:09:19 +02:00 (CEST)
Date last edited 2020-10-01 21:37:47 +02:00 (CEST)
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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