Variant (rsID / SNP)
rs2287498
rs2287498 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WRAP53, TP53. Location: chromosome 17, position 7,592,560. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
WRAP53Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:7592560
- Cytoband
- 17p13.1
- HGVS
- NM_001143992.2(WRAP53):c.450C>T (p.Phe150=)
- Allele change
- Synonymous_F150F
Associated conditions / phenotypes
Li-Fraumeni syndrome|Dyskeratosis congenita, autosomal recessive 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
