Variant (rsID / SNP)
rs997173
rs997173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TESPA1. Location: chromosome 12, position 55,355,033. The table records no clinical significance for this variant.
Reference-table entries
TESPA1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 12:55355033
- HGVS
- NM_001098815.3,c.1486G>A,p.Glu496Lys
- Allele change
- Missense_E358K
Associated conditions / phenotypes
Inflammatory Spondylopathy|Spondyloarthropathy 1|Spondylitis|Silent|Silent|Missense_E243K|Missense_E243K|Silent|Missense_E496K|Silent|Missense_E496K|Silent|Missense_E358K|Missense_E243K|Silent
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.