Variant (rsID / SNP)

rs397514619

rs397514619 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP2B3. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ATP2B3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp)
Allele change: Missense_G1107D

Associated conditions / phenotypes

X-linked progressive cerebellar ataxia

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.