Variant (rsID / SNP)

rs72554649

rs72554649 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.2938C>T (p.Arg980Ter)
Allele change: Nonsense_R902X

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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