ClinVar

NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p11.2

Genomic location:

• Chr7: 55174794 (on Assembly GRCh38)
• Chr7: 55242487 (on Assembly GRCh37)

Preferred name:

NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser)

HGVS:

• NC_000007.14:g.55174794C>T
• NG_007726.3:g.160763C>T
• NM_001346897.2:c.2122C>T
• NM_001346898.2:c.2257C>T
• NM_001346899.2:c.2122C>T
• NM_001346900.2:c.2098C>T
• NM_001346941.2:c.1456C>T
• NM_005228.5:c.2257C>TMANE SELECT
• NP_001333826.1:p.Pro708Ser
• NP_001333827.1:p.Pro753Ser
• NP_001333828.1:p.Pro708Ser
• NP_001333829.1:p.Pro700Ser
• NP_001333870.1:p.Pro486Ser
• NP_005219.2:p.Pro753Ser
• LRG_304:g.160763C>T
• NC_000007.13:g.55242487C>T

This HGVS expression did not pass validation

Protein change:

P486S

Links:

dbSNP: rs121913231

NCBI 1000 Genomes Browser:

rs121913231

Molecular consequence:

• NM_001346897.2:c.2122C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346898.2:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346899.2:c.2122C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346900.2:c.2098C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346941.2:c.1456C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005228.5:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]