Variant (rsID / SNP)
rs5768
rs5768 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBXAS1. Location: chromosome 7, position 139,653,196. The table records no clinical significance for this variant.
Reference-table entries
TBXAS1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 7:139653196
- HGVS
- NM_001166253.4,c.618A>C,p.Glu206Asp
- Allele change
- Missense_E93D
Associated conditions / phenotypes
Missense_E161D
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.