Variant (rsID / SNP)

rs142066316

rs142066316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL9A3. Location: chromosome 20, position 61,467,564. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL9A3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:61467564
Cytoband: 20q13.33
HGVS: NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg)
Allele change: Missense_P476R

Associated conditions / phenotypes

Connective tissue disorder

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.