Variant (rsID / SNP)

rs104894173

rs104894173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHYH. Location: chromosome 10, position 13,330,428. Clinical significance in the table: Pathogenic.

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Reference-table entries

PHYHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:13330428
Cytoband: 10p13
HGVS: NM_006214.4(PHYH):c.610G>A (p.Gly204Ser)
Allele change: Missense_G104S

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.