Variant (rsID / SNP)

rs150526992

rs150526992 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.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

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.880A>T (p.Asn294Tyr)
Allele change: Missense_N294Y

Associated conditions / phenotypes

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

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.