ClinVar

NM_005228.5(EGFR):c.2369C>T (p.Thr790Met)

Genes:

EGFR-AS1:EGFR antisense RNA 1 [Gene - HGNC]
EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p11.2

Genomic location:

• Chr7: 55181378 (on Assembly GRCh38)
• Chr7: 55249071 (on Assembly GRCh37)

Preferred name:

NM_005228.5(EGFR):c.2369C>T (p.Thr790Met)

HGVS:

• NC_000007.14:g.55181378C>T
• NG_007726.3:g.167347C>T
• NM_001346897.2:c.2234C>T
• NM_001346898.2:c.2369C>T
• NM_001346899.2:c.2234C>T
• NM_001346900.2:c.2210C>T
• NM_001346941.2:c.1568C>T
• NM_005228.5:c.2369C>TMANE SELECT
• NP_001333826.1:p.Thr745Met
• NP_001333827.1:p.Thr790Met
• NP_001333828.1:p.Thr745Met
• NP_001333829.1:p.Thr737Met
• NP_001333870.1:p.Thr523Met
• NP_005219.2:p.Thr790Met
• LRG_304t1:c.2369C>T
• LRG_304:g.167347C>T
• NC_000007.13:g.55249071C>T
• NM_005228.3:c.2369C>T
• NM_005228.4:c.2369C>T
• NM_005228.4:c.[2369C>T]
• NR_047551.1:n.1193G>A
• P00533:p.Thr790Met

This HGVS expression did not pass validation

Protein change:

T523M; THR790MET

Links:

PharmGKB: 981475450; PharmGKB: 981475450PA131301952; PharmGKB: 981475450PA134687924; PharmGKB Clinical Annotation: 981475450; UniProtKB: P00533#VAR_026098; OMIM: 131550.0006; dbSNP: rs121434569

NCBI 1000 Genomes Browser:

rs121434569

Molecular consequence:

• NM_001346897.2:c.2234C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346898.2:c.2369C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346899.2:c.2234C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346900.2:c.2210C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346941.2:c.1568C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005228.5:c.2369C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_047551.1:n.1193G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]