Variant (rsID / SNP)

rs144875223

rs144875223 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS5. Location: chromosome 11, position 18,309,464. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HPS5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:18309464
Cytoband: 11p15.1
HGVS: NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu)
Allele change: Missense_P732L

Associated conditions / phenotypes

Hermansky-Pudlak syndrome 5

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.