Variant (rsID / SNP)
rs35007347
rs35007347 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRIP11. Location: chromosome 14, position 92,465,749. Clinical significance in the table: Benign.
Reference-table entries
TRIP11Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:92465749
- Cytoband
- 14q32.12
- HGVS
- NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His)
- Allele change
- Missense_R1575H
Associated conditions / phenotypes
Achondrogenesis, type IA|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.