Variant (rsID / SNP)

rs72554638

rs72554638 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.1734C>T (p.Cys578=)
Allele change: Nonsense_C578X

Associated conditions / phenotypes

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

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.