Variant (rsID / SNP)

rs2293347

rs2293347 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EGFR. Location: chromosome 7, position 55,268,916. Clinical significance in the table: Benign.

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Reference-table entries

EGFRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:55268916
Cytoband: 7p11.2
HGVS: NM_005228.5(EGFR):c.2982C>T (p.Asp994=)
Allele change: Synonymous_D949D

Associated conditions / phenotypes

EGFR-related lung cancer

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.