ClinVar

NM_005228.5(EGFR):c.2224G>A (p.Val742Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p11.2

Genomic location:

• Chr7: 55174761 (on Assembly GRCh38)
• Chr7: 55242454 (on Assembly GRCh37)

Preferred name:

NM_005228.5(EGFR):c.2224G>A (p.Val742Ile)

HGVS:

• NC_000007.14:g.55174761G>A
• NG_007726.3:g.160730G>A
• NM_001346897.2:c.2089G>A
• NM_001346898.2:c.2224G>A
• NM_001346899.2:c.2089G>A
• NM_001346900.2:c.2065G>A
• NM_001346941.2:c.1423G>A
• NM_005228.5:c.2224G>AMANE SELECT
• NP_001333826.1:p.Val697Ile
• NP_001333827.1:p.Val742Ile
• NP_001333828.1:p.Val697Ile
• NP_001333829.1:p.Val689Ile
• NP_001333870.1:p.Val475Ile
• NP_005219.2:p.Val742Ile
• LRG_304t1:c.2224G>A
• LRG_304:g.160730G>A
• NC_000007.13:g.55242454G>A
• NM_005228.3:c.2224G>A

This HGVS expression did not pass validation

Protein change:

V475I

Links:

dbSNP: rs587778250

NCBI 1000 Genomes Browser:

rs587778250

Molecular consequence:

• NM_001346897.2:c.2089G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346898.2:c.2224G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346899.2:c.2089G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346900.2:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346941.2:c.1423G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005228.5:c.2224G>A - missense variant - [Sequence Ontology: SO:0001583]