Variant (rsID / SNP)

rs201293634

rs201293634 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC34A3. Location: chromosome 9, position 140,127,157. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC34A3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:140127157
Cytoband: 9q34.3
HGVS: NM_001177316.2(SLC34A3):c.304+2T>C
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive hypophosphatemic bone disease

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.