Variant (rsID / SNP)

rs117688924

rs117688924 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to P3H2. Location: chromosome 3, position 189,713,157. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

P3H2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:189713157
Cytoband: 3q28
HGVS: NM_018192.4(P3H2):c.555G>T (p.Gln185His)
Allele change: Missense_Q185H

Associated conditions / phenotypes

Myopia, high, with cataract and vitreoretinal degeneration

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.