Variant (rsID / SNP)
rs141883346
rs141883346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS3. Location: chromosome 3, position 148,847,561. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HPS3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:148847561
- Cytoband
- 3q24
- HGVS
- NM_032383.5(HPS3):c.51C>T (p.Pro17=)
- Allele change
- Synonymous_P17P
Associated conditions / phenotypes
Hermansky-Pudlak syndrome 3|Hermansky-Pudlak syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.