Variant (rsID / SNP)

rs104894174

rs104894174 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHYH. Location: chromosome 10, position 13,325,694. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PHYHLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:13325694
Cytoband: 10p13
HGVS: NM_006214.4(PHYH):c.824G>A (p.Arg275Gln)
Allele change: Missense_R175Q

Associated conditions / phenotypes

Refsum disease, adult, 1

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.