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) |

Variant on transcripts
Screenings
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