Variant (rsID / SNP)
rs2291166
rs2291166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TJP1. Location: chromosome 15, position 30,008,977. The table records no clinical significance for this variant.
Reference-table entries
TJP1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 15:30008977
- HGVS
- NM_001301025.3,c.4319A>C,p.Asp1440Ala
- Allele change
- Missense_D1347A
Associated conditions / phenotypes
Missense_D1440A|Missense_D1267A|Missense_D1267A|Missense_D1351A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.