Variant (rsID / SNP)

rs142974512

rs142974512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL9A2. Location: chromosome 1, position 40,768,807. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL9A2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:40768807
Cytoband: 1p34.2
HGVS: NM_001852.4(COL9A2):c.1599G>T (p.Leu533=)
Allele change: Synonymous_L533L

Associated conditions / phenotypes

Epiphyseal dysplasia, multiple, 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.