Variant (rsID / SNP)

rs140950220

rs140950220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL27A1. Location: chromosome 9, position 116,958,257. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL27A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:116958257
Cytoband: 9q32
HGVS: NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg)
Allele change: Missense_G697R

Associated conditions / phenotypes

Steel syndrome

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.