ATP7A NM_000052.7(ATP7A):c.1811C>T (p.Ala604Val)

CI-VAR-00212694Explore in graph →p.Ala604ValNM_000052.7:c.1811C>TClinVar 1395235 rs375103934

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
1395235	Likely benign	criteria provided, single submitter	1	Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3; Menkes kinky-hair syndrome; Uterine corpus endometrial carcinoma	germline	2	Jun 11, 2025	clinvar