Variant (rsID / SNP)

rs28938169

rs28938169 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHYH. Location: chromosome 10, position 13,340,236. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PHYHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:13340236
Cytoband: 10p13
HGVS: NM_006214.4(PHYH):c.85C>T (p.Pro29Ser)
Allele change: Silent

Associated conditions / phenotypes

Phytanic acid storage 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.