Sensitive

Menkes kinky-hair syndrome

ATP7A · rs797045370

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Likely benign for X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome, Cutis laxa, X-linked; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2025-08-08. ClinVar record 1653886 NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=)

Classification Pathogenic for Menkes kinky-hair syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2013-02-08. ClinVar record 210444 NM_000052.7(ATP7A):c.3132T>G (p.Asp1044Glu)

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

G/G Two copies of the version ClinVar lists as disease-causing for Menkes kinky-hair syndrome. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. So far only one lab has made this call, so it may change. (ClinVar VCV000210444, criteria provided, single submitter)

G/T One copy of the version ClinVar lists as disease-causing for Menkes kinky-hair syndrome. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. So far only one lab has made this call, so it may change. (ClinVar VCV000210444, criteria provided, single submitter)

T/T No copy of the version ClinVar lists as disease-causing for Menkes kinky-hair syndrome. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000210444, criteria provided, single submitter)

Source: ClinVar VCV000210444, criteria provided, single submitter

Questions about rs797045370

What is rs797045370?

rs797045370 is a single position in the genome, in or near the ATP7A gene. Published research associates it with menkes kinky-hair syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs797045370 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs797045370 come from?

ClinVar VCV000210444, criteria provided, single submitter. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Menkes kinky-hair syndrome (rs797045370). MyGeneLog™. https://www.mygenelog.com/variants/rs797045370

← See all variants