Variant (rsID / SNP)

rs104894334

rs104894334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AQP2. Location: chromosome 12, position 50,348,016. Clinical significance in the table: Pathogenic.

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Reference-table entries

AQP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:50348016
Cytoband: 12q13.12
HGVS: NM_000486.6(AQP2):c.439G>A (p.Ala147Thr)
Allele change: Missense_A147T

Associated conditions / phenotypes

Diabetes insipidus, nephrogenic, autosomal|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.