Variant (rsID / SNP)

rs72554640

rs72554640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7A. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ATP7APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
Allele change: Nonsense_R645X

Associated conditions / phenotypes

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

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.