Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs143201338

SLC34A1

rs143201338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC34A1. Location: chromosome 5, position 176,821,194. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SLC34A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:176821194
Cytoband
5q35.3
HGVS
NM_003052.5(SLC34A1):c.1172C>T (p.Thr391Met)
Allele change
Missense_T391M

Associated conditions / phenotypes

Hypophosphatemic nephrolithiasis/osteoporosis 1

Public references

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