Variant (rsID / SNP)

rs1801244

rs1801244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,544,805. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ATP7BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:52544805
Cytoband: 13q14.3
HGVS: NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)
Allele change: Missense_V456L

Associated conditions / phenotypes

Wilson disease

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.