Variant (rsID / SNP)

rs376292686

rs376292686 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EXT2. Location: chromosome 11, position 44,129,545. 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: 11:44129545
Cytoband: 11p11.2
HGVS: NM_207122.2(EXT2):c.283C>T (p.Arg95Cys)
Allele change: Missense_R95C

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.