Variant (rsID / SNP)

rs115119084

rs115119084 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC34A1, F12. Location: chromosome 5, position 176,830,527. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC34A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:176830527
Cytoband: 5q35.3
HGVS: NM_000505.4(F12):c.1342C>T (p.Arg448Cys)
Allele change: Missense_R448C

Associated conditions / phenotypes

Hereditary angioneurotic edema|Factor XII deficiency disease|Nephrolithiasis/osteoporosis, hypophosphatemic|Hereditary angioedema type 3

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.