Variant (rsID / SNP)

rs138495222

rs138495222 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EXT2. Location: chromosome 11, position 44,254,000. 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: 11:44254000
Cytoband: 11p11.2
HGVS: NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)
Allele change: Missense_T597M

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.