Variant (rsID / SNP)

rs148711133

rs148711133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EXT2. Location: chromosome 11, position 44,228,435. 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: 11:44228435
Cytoband: 11p11.2
HGVS: NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys)
Allele change: Missense_E540K

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.