Variant (rsID / SNP)

rs104894747

rs104894747 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AVPR2. Clinical significance in the table: Pathogenic.

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Reference-table entries

AVPR2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000054.7(AVPR2):c.395C>A (p.Ala132Asp)
Allele change: Silent

Associated conditions / phenotypes

Diabetes insipidus, nephrogenic, X-linked

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.