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Variant (rsID / SNP)

rs111589746

EXT2

rs111589746 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EXT2. Location: chromosome 11, position 44,129,782. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EXT2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:44129782
Cytoband
11p11.2
HGVS
NM_207122.2(EXT2):c.520A>C (p.Met174Leu)
Allele change
Missense_M174L

Associated conditions / phenotypes

Exostoses, multiple, type 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.