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Variant (rsID / SNP)

rs34044544

SLC34A1

rs34044544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC34A1. Location: chromosome 5, position 176,824,007. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC34A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:176824007
Cytoband
5q35.3
HGVS
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser)
Allele change
Missense_G450S

Associated conditions / phenotypes

Hypophosphatemic nephrolithiasis/osteoporosis 1|Fanconi renotubular syndrome 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.