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Variant (rsID / SNP)

rs2227291

ATP7A

rs2227291 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7A. Clinical significance in the table: Benign.

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Reference-table entries

ATP7ABenign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Cytoband
Xq21.1
HGVS
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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