Variant (rsID / SNP)
rs1062535
rs1062535 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITGA2. Location: chromosome 5, position 52,351,413. Clinical significance in the table: Benign.
Reference-table entries
ITGA2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:52351413
- Cytoband
- 5q11.2
- HGVS
- NM_002203.4(ITGA2):c.825G>A (p.Thr275=)
- Allele change
- Synonymous_T275T
Associated conditions / phenotypes
Platelet-type bleeding disorder 9
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.