Variant (rsID / SNP)
rs121434480
rs121434480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HPGD. Location: chromosome 4, position 175,429,850. Clinical significance in the table: Pathogenic.
Reference-table entries
HPGDPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:175429850
- Cytoband
- 4q34.1
- HGVS
- NM_000860.6(HPGD):c.418G>C (p.Ala140Pro)
- Allele change
- Missense_A140P
Associated conditions / phenotypes
Cranioosteoarthropathy|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.