Variant (rsID / SNP)

rs2277448

rs2277448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG11, ATP7B. Location: chromosome 13, position 52,585,548. Clinical significance in the table: Benign.

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Reference-table entries

ALG11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:52585548
Cytoband: 13q14.3
HGVS: NM_000053.4(ATP7B):c.-75C>A
Allele change: Silent

Associated conditions / phenotypes

Congenital disorder of glycosylation|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.