Variant (rsID / SNP)

rs141735624

rs141735624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OSTM1. Location: chromosome 6, position 108,395,635. 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: 6:108395635
Cytoband: 6q21
HGVS: NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg)
Allele change: Missense_P74R

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.