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Variant (rsID / SNP)

rs143907597

ATP7A

rs143907597 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7A. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATP7AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Cytoband
Xq21.1
HGVS
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
Allele change
Missense_I506V

Associated conditions / phenotypes

X-linked distal spinal muscular atrophy type 3|Menkes kinky-hair syndrome|Cutis laxa, X-linked|History of neurodevelopmental disorder|Menkes kinky-hair syndrome|Ehlers-Danlos syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.