Variant (rsID / SNP)
rs200821009
rs200821009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TECTA. Location: chromosome 11, position 121,008,155. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TECTAConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:121008155
- Cytoband
- 11q23.3
- HGVS
- NM_005422.4(TECTA):c.2967C>A (p.His989Gln)
- Allele change
- Missense_H989Q
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
