Variant (rsID / SNP)

rs144884147

rs144884147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A1. Location: chromosome 1, position 103,488,522. 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: 1:103488522
Cytoband: 1p21.1
HGVS: NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
Allele change: Silent

Associated conditions / phenotypes

Fibrochondrogenesis 1|Stickler syndrome 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.