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Variant (rsID / SNP)

rs56230601

COL11A1

rs56230601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A1. Location: chromosome 1, position 103,548,420. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL11A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:103548420
Cytoband
1p21.1
HGVS
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)
Allele change
Silent

Associated conditions / phenotypes

Stickler syndrome type 2|Fibrochondrogenesis 1

Public references

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