Variant (rsID / SNP)

rs144496976

rs144496976 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EGFR. Location: chromosome 7, position 55,268,045. Clinical significance in the table: Uncertain significance.

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Reference-table entries

EGFRUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:55268045
Cytoband: 7p11.2
HGVS: NM_005228.5(EGFR):c.2885G>A (p.Arg962His)
Allele change: Missense_R917H

Associated conditions / phenotypes

Hereditary cancer|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.