Variant (rsID / SNP)

rs1140047

rs1140047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS5. Location: chromosome 11, position 18,327,684. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HPS5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:18327684
Cytoband: 11p15.1
HGVS: NM_181507.2(HPS5):c.822C>A (p.Leu274=)
Allele change: Synonymous_L160L

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.