ClinVar

NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg)

Gene:

EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p11.2

Genomic location:

• Chr7: 55191831 (on Assembly GRCh38)
• Chr7: 55259524 (on Assembly GRCh37)

Preferred name:

NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg)

HGVS:

• NC_000007.14:g.55191831T>G
• NG_007726.3:g.177800T>G
• NM_001346897.2:c.2447T>G
• NM_001346898.2:c.2582T>G
• NM_001346899.2:c.2447T>G
• NM_001346900.2:c.2423T>G
• NM_001346941.2:c.1781T>G
• NM_005228.5:c.2582T>GMANE SELECT
• NP_001333826.1:p.Leu816Arg
• NP_001333827.1:p.Leu861Arg
• NP_001333828.1:p.Leu816Arg
• NP_001333829.1:p.Leu808Arg
• NP_001333870.1:p.Leu594Arg
• NP_005219.2:p.Leu861Arg
• LRG_304t1:c.2582T>G
• LRG_304:g.177800T>G
• NC_000007.13:g.55259524T>G
• NM_005228.3:c.2582T>G
• c.2582T>G

This HGVS expression did not pass validation

Protein change:

L594R

Links:

dbSNP: rs121913444

NCBI 1000 Genomes Browser:

rs121913444

Molecular consequence:

• NM_001346897.2:c.2447T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346898.2:c.2582T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346899.2:c.2447T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346900.2:c.2423T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346941.2:c.1781T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005228.5:c.2582T>G - missense variant - [Sequence Ontology: SO:0001583]