Variant (rsID / SNP)

rs187343742

rs187343742 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,518,419. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATP7BConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 13:52518419
Cytoband: 13q14.3
HGVS: NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=)
Allele change: Synonymous_T939T

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.