ClinVar

NM_005228.5(EGFR):c.628+16G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p11.2

Genomic location:

• Chr7: 55151378 (on Assembly GRCh38)
• Chr7: 55219071 (on Assembly GRCh37)

Preferred name:

NM_005228.5(EGFR):c.628+16G>A

HGVS:

• NC_000007.14:g.55151378G>A
• NG_007726.3:g.137347G>A
• NM_001346897.2:c.493+16G>A
• NM_001346898.2:c.628+16G>A
• NM_001346899.2:c.493+16G>A
• NM_001346900.2:c.469+16G>A
• NM_001346941.2:c.89-4452G>A
• NM_005228.5:c.628+16G>AMANE SELECT
• NM_201282.2:c.628+16G>A
• NM_201283.2:c.628+16G>A
• NM_201284.2:c.628+16G>A
• LRG_304:g.137347G>A
• NC_000007.13:g.55219071G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001346897.2:c.493+16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001346898.2:c.628+16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001346899.2:c.493+16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001346900.2:c.469+16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001346941.2:c.89-4452G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_005228.5:c.628+16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_201282.2:c.628+16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_201283.2:c.628+16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_201284.2:c.628+16G>A - intron variant - [Sequence Ontology: SO:0001627]