{{Rsnum
|rsid=2227291
|Gene=ATP7A
|Chromosome=X
|position=78013005
|Orientation=plus
|GMAF=0.2763
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=ATP7A
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 17.9 | 17.9 | 64.3
| HCB | 13.9 | 22.6 | 63.5
| JPT | 22.1 | 21.2 | 56.6
| YRI | 20.0 | 30.3 | 49.7
| ASW | 8.8 | 29.8 | 61.4
| CHB | 13.9 | 22.6 | 63.5
| CHD | 19.3 | 22.0 | 58.7
| GIH | 30.7 | 17.8 | 51.5
| LWK | 32.1 | 28.4 | 39.4
| MEX | 12.1 | 3.4 | 84.5
| MKK | 28.4 | 25.2 | 46.5
| TSI | 13.1 | 17.2 | 69.7
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs2227291
|Name_s=ATP7A:rs2227291 C>G; NM_000052.4:c.2299G>C; NP_000043.3:p.Val767Leu
|Gene_s=ATP7A
|Feature=Exon/NonSyn
|Evidence=PubMed ID:20038957
|Annotation=Risk or phenotype-associated allele: G Phenotype: The ATP7A:rs2227291 G variant was associated with toxicity in response to docetaxel and thalidomide. Study size: 47 Study population/ethnicity: Patients diagnosed with castration-resistant prostate cancer enrolled in a randomized phase II clinical trial comparing docetaxel to docetaxel with thalidomide. Significance metric(s): p = 0.006 Type of association: CO; TOX
|Drugs=docetaxel; thalidomide
|Drug Classes=
|Diseases=Prostatic Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165111540
}}

{{PMID|18339804|OA=1
}} X-inactivation in female human embryonic stem cells is in a nonrandom pattern and prone to epigenetic alterations.

{{GET Evidence
|gene=ATP7A
|aa_change=Val767Leu
|aa_change_short=V767L
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2227291
|overall_frequency_n=2228
|overall_frequency_d=8756
|overall_frequency=0.254454
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=35
|n_articles=1
|n_articles_annotated=1
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=4
|webscore=N
|n_web_uneval=9
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}