Variant (rsID / SNP)

rs9480830

rs9480830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OSTM1. Location: chromosome 6, position 108,395,700. Clinical significance in the table: Benign.

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Reference-table entries

OSTM1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:108395700
Cytoband: 6q21
HGVS: NM_014028.4(OSTM1):c.156G>C (p.Leu52Phe)
Allele change: Missense_L52F

Associated conditions / phenotypes

Autosomal recessive osteopetrosis 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.