Variant (rsID / SNP)
rs61735626
rs61735626 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDGFRA. Location: chromosome 4, position 55,146,556. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
PDGFRABenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:55146556
- Cytoband
- 4q12
- HGVS
- NM_006206.6(PDGFRA):c.2230C>T (p.Pro744Ser)
- Allele change
- Missense_P744S
Associated conditions / phenotypes
Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
