ClinVar

NM_005228.5(EGFR):c.3352G>A (p.Ala1118Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p11.2

Genomic location:

• Chr7: 55205336 (on Assembly GRCh38)
• Chr7: 55273029 (on Assembly GRCh37)

Preferred name:

NM_005228.5(EGFR):c.3352G>A (p.Ala1118Thr)

HGVS:

• NC_000007.14:g.55205336G>A
• NG_007726.3:g.191305G>A
• NM_001346899.2:c.3217G>A
• NM_001346900.2:c.3193G>A
• NM_001346941.2:c.2551G>A
• NM_005228.5:c.3352G>AMANE SELECT
• NP_001333828.1:p.Ala1073Thr
• NP_001333829.1:p.Ala1065Thr
• NP_001333870.1:p.Ala851Thr
• NP_005219.2:p.Ala1118Thr
• LRG_304t1:c.3352G>A
• LRG_304:g.191305G>A
• NC_000007.13:g.55273029G>A
• NM_005228.3:c.3352G>A

This HGVS expression did not pass validation

Protein change:

A1065T

Links:

dbSNP: rs770749711

NCBI 1000 Genomes Browser:

rs770749711

Molecular consequence:

• NM_001346899.2:c.3217G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346900.2:c.3193G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346941.2:c.2551G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005228.5:c.3352G>A - missense variant - [Sequence Ontology: SO:0001583]