Variant (rsID / SNP)

rs34225933

rs34225933 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F12, SLC34A1. Location: chromosome 5, position 176,825,069. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

F12Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:176825069
Cytoband: 5q35.3
HGVS: NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr)
Allele change: Missense_H568Y

Associated conditions / phenotypes

Hereditary angioneurotic edema|Factor XII deficiency disease|Nephrolithiasis/osteoporosis, hypophosphatemic|Hypophosphatemic nephrolithiasis/osteoporosis 1

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.