Variant (rsID / SNP)

rs193922494

rs193922494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AQP2. Location: chromosome 12, position 50,344,836. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

AQP2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:50344836
Cytoband: 12q13.12
HGVS: NM_000486.6(AQP2):c.223T>G (p.Cys75Gly)
Allele change: Missense_C75G

Associated conditions / phenotypes

Nephrogenic diabetes insipidus

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.