ClinVar

NM_005228.5(EGFR):c.2316C>T (p.Pro772=)

Genes:

EGFR-AS1:EGFR antisense RNA 1 [Gene - HGNC]
EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p11.2

Genomic location:

• Chr7: 55181325 (on Assembly GRCh38)
• Chr7: 55249018 (on Assembly GRCh37)

Preferred name:

NM_005228.5(EGFR):c.2316C>T (p.Pro772=)

HGVS:

• NC_000007.14:g.55181325C>T
• NG_007726.3:g.167294C>T
• NM_001346897.2:c.2181C>T
• NM_001346898.2:c.2316C>T
• NM_001346899.2:c.2181C>T
• NM_001346900.2:c.2157C>T
• NM_001346941.2:c.1515C>T
• NM_005228.5:c.2316C>TMANE SELECT
• NP_001333826.1:p.Pro727=
• NP_001333827.1:p.Pro772=
• NP_001333828.1:p.Pro727=
• NP_001333829.1:p.Pro719=
• NP_001333870.1:p.Pro505=
• NP_005219.2:p.Pro772=
• LRG_304:g.167294C>T
• NC_000007.13:g.55249018C>T
• NR_047551.1:n.1246G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs761020556

NCBI 1000 Genomes Browser:

rs761020556

Molecular consequence:

• NR_047551.1:n.1246G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001346897.2:c.2181C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346898.2:c.2316C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346899.2:c.2181C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346900.2:c.2157C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346941.2:c.1515C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005228.5:c.2316C>T - synonymous variant - [Sequence Ontology: SO:0001819]