Variant (rsID / SNP)

rs72554639

rs72554639 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7A. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ATP7ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro)
Allele change: Missense_A629P

Associated conditions / phenotypes

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.