Variant (rsID / SNP)

rs144862714

rs144862714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL11A2. Location: chromosome 6, position 33,147,579. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL11A2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:33147579
Cytoband: 6p21.32
HGVS: NM_080680.3(COL11A2):c.1363C>T (p.Arg455Trp)
Allele change: Missense_R369W

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.