ClinVar

NM_005228.5(EGFR):c.2491C>T (p.Arg831Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p11.2

Genomic location:

• Chr7: 55191740 (on Assembly GRCh38)
• Chr7: 55259433 (on Assembly GRCh37)

Preferred name:

NM_005228.5(EGFR):c.2491C>T (p.Arg831Cys)

HGVS:

• NC_000007.14:g.55191740C>T
• NG_007726.3:g.177709C>T
• NM_001346897.2:c.2356C>T
• NM_001346898.2:c.2491C>T
• NM_001346899.2:c.2356C>T
• NM_001346900.2:c.2332C>T
• NM_001346941.2:c.1690C>T
• NM_005228.4:c.2491C>T
• NM_005228.5:c.2491C>TMANE SELECT
• NP_001333826.1:p.Arg786Cys
• NP_001333827.1:p.Arg831Cys
• NP_001333828.1:p.Arg786Cys
• NP_001333829.1:p.Arg778Cys
• NP_001333870.1:p.Arg564Cys
• NP_005219.2:p.Arg831Cys
• LRG_304t1:c.2491C>T
• LRG_304:g.177709C>T
• NC_000007.13:g.55259433C>T
• NM_005228.3:c.2491C>T
• NM_005228.5:c.2491C>T
• c.2491C>T

This HGVS expression did not pass validation

Protein change:

R564C

Links:

dbSNP: rs371228501

NCBI 1000 Genomes Browser:

rs371228501

Molecular consequence:

• NM_001346897.2:c.2356C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346898.2:c.2491C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346899.2:c.2356C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346900.2:c.2332C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346941.2:c.1690C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005228.5:c.2491C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2