Variant (rsID / SNP)

rs202208526

rs202208526 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EXT2. Location: chromosome 11, position 44,135,764. Clinical significance in the table: Uncertain significance.

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Reference-table entries

EXT2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:44135764
Cytoband: 11p11.2
HGVS: NM_207122.2(EXT2):c.656C>T (p.Thr219Met)
Allele change: Missense_T219M

Associated conditions / phenotypes

Exostoses, multiple, type 2

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.