ClinVar

NM_005228.5(EGFR):c.2572C>T (p.Leu858=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p11.2

Genomic location:

• Chr7: 55191821 (on Assembly GRCh38)
• Chr7: 55259514 (on Assembly GRCh37)

Preferred name:

NM_005228.5(EGFR):c.2572C>T (p.Leu858=)

HGVS:

• NC_000007.14:g.55191821C>T
• NG_007726.3:g.177790C>T
• NM_001346897.2:c.2437C>T
• NM_001346898.2:c.2572C>T
• NM_001346899.2:c.2437C>T
• NM_001346900.2:c.2413C>T
• NM_001346941.2:c.1771C>T
• NM_005228.5:c.2572C>TMANE SELECT
• NP_001333826.1:p.Leu813=
• NP_001333827.1:p.Leu858=
• NP_001333828.1:p.Leu813=
• NP_001333829.1:p.Leu805=
• NP_001333870.1:p.Leu591=
• NP_005219.2:p.Leu858=
• LRG_304t1:c.2572C>T
• LRG_304:g.177790C>T
• NC_000007.13:g.55259514C>T
• NM_005228.3:c.2572C>T
• c.2572C>T
• p.Leu858Leu

This HGVS expression did not pass validation

Links:

dbSNP: rs121913443

NCBI 1000 Genomes Browser:

rs121913443

Molecular consequence:

• NM_001346897.2:c.2437C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346898.2:c.2572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346899.2:c.2437C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346900.2:c.2413C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346941.2:c.1771C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005228.5:c.2572C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1