Variant (rsID / SNP)

rs148976897

rs148976897 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC34A1. Location: chromosome 5, position 176,813,433. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC34A1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:176813433
Cytoband: 5q35.3
HGVS: NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val)
Allele change: Missense_A133V

Associated conditions / phenotypes

Hypophosphatemic nephrolithiasis/osteoporosis 1|Nephrocalcinosis

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.