ClinVar

NM_001963.6(EGF):c.2124G>A (p.Met708Ile)

Genes:

LOC126807134:BRD4-independent group 4 enhancer GRCh37_chr4:110900995-110902194 [Gene]
EGF:epidermal growth factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q25

Genomic location:

• Chr4: 109980042 (on Assembly GRCh38)
• Chr4: 110901198 (on Assembly GRCh37)

Preferred name:

NM_001963.6(EGF):c.2124G>A (p.Met708Ile)

HGVS:

• NC_000004.12:g.109980042G>A
• NG_011441.2:g.72159G>A
• NM_001178130.3:c.2124G>A
• NM_001178131.3:c.1998G>A
• NM_001357021.2:c.1998G>A
• NM_001963.6:c.2124G>AMANE SELECT
• NP_001171601.1:p.Met708Ile
• NP_001171602.1:p.Met666Ile
• NP_001343950.1:p.Met666Ile
• NP_001954.2:p.Met708Ile
• NC_000004.11:g.110901198G>A
• NG_011441.1:g.72159G>A
• NM_001963.4:c.2124G>A
• P01133:p.Met708Ile

This HGVS expression did not pass validation

Protein change:

M666I

Links:

UniProtKB: P01133#VAR_002275; dbSNP: rs2237051

NCBI 1000 Genomes Browser:

rs2237051

Molecular consequence:

• NM_001178130.3:c.2124G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178131.3:c.1998G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001357021.2:c.1998G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001963.6:c.2124G>A - missense variant - [Sequence Ontology: SO:0001583]