ClinVar

NM_005228.5(EGFR):c.322A>G (p.Arg108Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p11.2

Genomic location:

• Chr7: 55143386 (on Assembly GRCh38)
• Chr7: 55211079 (on Assembly GRCh37)

Preferred name:

NM_005228.5(EGFR):c.322A>G (p.Arg108Gly)

HGVS:

• NC_000007.14:g.55143386A>G
• NG_007726.3:g.129355A>G
• NM_001346897.2:c.322A>G
• NM_001346898.2:c.322A>G
• NM_001346899.2:c.322A>G
• NM_001346900.2:c.163A>G
• NM_001346941.2:c.89-12444A>G
• NM_005228.5:c.322A>GMANE SELECT
• NM_201282.2:c.322A>G
• NM_201283.2:c.322A>G
• NM_201284.2:c.322A>G
• NP_001333826.1:p.Arg108Gly
• NP_001333827.1:p.Arg108Gly
• NP_001333828.1:p.Arg108Gly
• NP_001333829.1:p.Arg55Gly
• NP_005219.2:p.Arg108Gly
• NP_958439.1:p.Arg108Gly
• NP_958440.1:p.Arg108Gly
• NP_958441.1:p.Arg108Gly
• LRG_304:g.129355A>G
• NC_000007.13:g.55211079A>G

This HGVS expression did not pass validation

Protein change:

R108G

Links:

dbSNP: rs1057519888

NCBI 1000 Genomes Browser:

rs1057519888

Molecular consequence:

• NM_001346941.2:c.89-12444A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001346897.2:c.322A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346898.2:c.322A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346899.2:c.322A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346900.2:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005228.5:c.322A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_201282.2:c.322A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_201283.2:c.322A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_201284.2:c.322A>G - missense variant - [Sequence Ontology: SO:0001583]