Variant (rsID / SNP)
rs2072454
rs2072454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EGFR. Location: chromosome 7, position 55,214,348. Clinical significance in the table: Benign.
Reference-table entries
EGFRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:55214348
- Cytoband
- 7p11.2
- HGVS
- NM_005228.5(EGFR):c.474C>T (p.Asn158=)
- Allele change
- Silent
Associated conditions / phenotypes
EGFR-related lung cancer|Inflammatory skin and bowel disease, neonatal, 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.