Variant (rsID / SNP)

rs104894004

rs104894004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AQP1. Location: chromosome 7, position 30,951,637. Clinical significance in the table: Pathogenic.

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Reference-table entries

AQP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:30951637
Cytoband: 7p14.3
HGVS: NM_198098.4(AQP1):c.113C>T (p.Pro38Leu)
Allele change: Missense_P38L

Associated conditions / phenotypes

Colton-null phenotype

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.