Variant (rsID / SNP)

rs137853142

rs137853142 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC34A2. Location: chromosome 4, position 25,665,889. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC34A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:25665889
Cytoband: 4p15.2
HGVS: NM_006424.3(SLC34A2):c.316G>C (p.Gly106Arg)
Allele change: Missense_G106R

Associated conditions / phenotypes

PULMONARY ALVEOLAR MICROLITHIASIS

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.