Variant (rsID / SNP)

rs17439693

rs17439693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EXT1. Location: chromosome 8, position 118,832,020. Clinical significance in the table: Benign.

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Reference-table entries

EXT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:118832020
Cytoband: 8q24.11
HGVS: NM_000127.3(EXT1):c.1431C>T (p.Pro477=)
Allele change: Synonymous_P477P

Associated conditions / phenotypes

Multiple congenital exostosis

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.