Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201399429

COL11A2

rs201399429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A2. Location: chromosome 6, position 33,154,450. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

COL11A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:33154450
Cytoband
6p21.32
HGVS
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu)
Allele change
Missense_Q251L

Associated conditions / phenotypes

Fibrochondrogenesis 2|Stickler Syndrome, Dominant|Otospondylomegaepiphyseal dysplasia, autosomal dominant|Otospondylomegaepiphyseal dysplasia, autosomal recessive

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.