Variant (rsID / SNP)
rs28897764
rs28897764 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATR. Location: chromosome 3, position 142,281,298. Clinical significance in the table: Benign.
Reference-table entries
ATRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:142281298
- Cytoband
- 3q23
- HGVS
- NM_001184.4(ATR):c.946G>A (p.Val316Ile)
- Allele change
- Missense_V316I
Associated conditions / phenotypes
Seckel syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.