Variant (rsID / SNP)
rs33972295
rs33972295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATR. Location: chromosome 3, position 142,178,118. Clinical significance in the table: Benign.
Reference-table entries
ATRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:142178118
- Cytoband
- 3q23
- HGVS
- NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala)
- Allele change
- Missense_P2434A
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.