Variant (rsID / SNP)
rs121909353
rs121909353 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDF6. Location: chromosome 8, position 97,156,888. Clinical significance in the table: Likely benign.
Reference-table entries
GDF6Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:97156888
- Cytoband
- 8q22.1
- HGVS
- NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)
- Allele change
- Missense_K424R
Associated conditions / phenotypes
Klippel-Feil syndrome 1, autosomal dominant|Klippel-Feil syndrome|Klippel-Feil syndrome 1, autosomal dominant|Autosomal dominant Parkinson disease 8|Klippel-Feil syndrome 1, autosomal dominant|Leber congenital amaurosis 17|Isolated microphthalmia 4|Microphthalmia, isolated, with coloboma 6
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.