Variant (rsID / SNP)

rs104894178

rs104894178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHYH. Location: chromosome 10, position 13,325,695. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PHYHPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:13325695
Cytoband: 10p13
HGVS: NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
Allele change: Missense_R175W

Associated conditions / phenotypes

Refsum disease, adult, 1|Retinitis pigmentosa|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.