Variant (rsID / SNP)
rs34032300
rs34032300 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TEK. Location: chromosome 9, position 27,183,598. Clinical significance in the table: Benign.
Reference-table entries
TEKBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:27183598
- Cytoband
- 9p21.2
- HGVS
- NM_000459.5(TEK):c.1172C>T (p.Thr391Ile)
- Allele change
- Missense_T348I
Associated conditions / phenotypes
Multiple cutaneous and mucosal venous malformations
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.