Variant (rsID / SNP)

rs149229493

rs149229493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPS5. Location: chromosome 11, position 18,332,420. Clinical significance in the table: Likely benign.

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Reference-table entries

HPS5Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:18332420
Cytoband: 11p15.1
HGVS: NM_181507.2(HPS5):c.345G>A (p.Met115Ile)
Allele change: Missense_M1I

Associated conditions / phenotypes

Hermansky-Pudlak syndrome 5|Thrombocytopenia|Abnormal bleeding

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.