Variant (rsID / SNP)
rs140926412
rs140926412 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDF3. Location: chromosome 12, position 7,842,773. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GDF3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:7842773
- Cytoband
- 12p13.31
- HGVS
- NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)
- Allele change
- Missense_R266C
Associated conditions / phenotypes
Microphthalmia, isolated, with coloboma 6|Klippel-Feil syndrome 3, autosomal dominant|Scoliosis|Hemivertebrae|Supernumerary ribs|Missing ribs
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.