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Variant (rsID / SNP)

rs267606672

ATP7A

rs267606672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7A. Clinical significance in the table: Pathogenic.

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Reference-table entries

ATP7APathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Cytoband
Xq21.1
HGVS
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)
Allele change
Missense_P1308S

Associated conditions / phenotypes

X-linked distal spinal muscular atrophy type 3|Charcot-Marie-Tooth disease|X-linked distal spinal muscular atrophy type 3|Menkes kinky-hair syndrome|Cutis laxa, X-linked|Menkes kinky-hair syndrome

Public references

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