Variant (rsID / SNP)

rs121912945

rs121912945 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A2. Location: chromosome 6, position 33,144,993. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL11A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:33144993
Cytoband: 6p21.32
HGVS: NM_080680.3(COL11A2):c.1981G>A (p.Gly661Arg)
Allele change: Missense_G575R

Associated conditions / phenotypes

Otospondylomegaepiphyseal dysplasia, autosomal recessive

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.