Variant (rsID / SNP)

rs119103290

rs119103290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EXT1. Location: chromosome 8, position 118,849,385. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EXT1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:118849385
Cytoband: 8q24.11
HGVS: NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys)
Allele change: Missense_R340C

Associated conditions / phenotypes

Multiple congenital exostosis|Exostoses, multiple, type 1

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.