ClinVar

NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)

Gene:

BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

• Chr7: 140781602 (on Assembly GRCh38)
• Chr7: 140481402 (on Assembly GRCh37)

Preferred name:

NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)

Other names:

p.G469E:GGA>GAA; NM_004333.5(BRAF):c.1406G>A; NM_004333.6(BRAF):c.1406G>A

HGVS:

• NC_000007.14:g.140781602C>T
• NG_007873.3:g.148163G>A
• NM_001354609.2:c.1406G>A
• NM_001374244.1:c.1526G>A
• NM_001374258.1:c.1526G>A
• NM_001378467.1:c.1415G>A
• NM_001378468.1:c.1406G>A
• NM_001378469.1:c.1340G>A
• NM_001378470.1:c.1304G>A
• NM_001378471.1:c.1295G>A
• NM_001378472.1:c.1250G>A
• NM_001378473.1:c.1250G>A
• NM_001378474.1:c.1406G>A
• NM_001378475.1:c.1142G>A
• NM_004333.6:c.1406G>AMANE SELECT
• NP_001341538.1:p.Gly469Glu
• NP_001361173.1:p.Gly509Glu
• NP_001361187.1:p.Gly509Glu
• NP_001365396.1:p.Gly472Glu
• NP_001365397.1:p.Gly469Glu
• NP_001365398.1:p.Gly447Glu
• NP_001365399.1:p.Gly435Glu
• NP_001365400.1:p.Gly432Glu
• NP_001365401.1:p.Gly417Glu
• NP_001365402.1:p.Gly417Glu
• NP_001365403.1:p.Gly469Glu
• NP_001365404.1:p.Gly381Glu
• NP_004324.2:p.Gly469Glu
• LRG_299t1:c.1406G>A
• LRG_299:g.148163G>A
• NC_000007.13:g.140481402C>T
• NM_001374258.1:c.1526G>A
• NM_004333.4:c.1406G>A
• NM_004333.5:c.1406G>A
• P15056:p.Gly469Glu
• c.1406G>A

This HGVS expression did not pass validation

Protein change:

G381E; GLY469GLU

Links:

UniProtKB: P15056#VAR_018621; OMIM: 164757.0014; dbSNP: rs121913355

NCBI 1000 Genomes Browser:

rs121913355

Molecular consequence:

• NM_001354609.2:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374244.1:c.1526G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374258.1:c.1526G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378467.1:c.1415G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378468.1:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378469.1:c.1340G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378470.1:c.1304G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378471.1:c.1295G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378472.1:c.1250G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378473.1:c.1250G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378474.1:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378475.1:c.1142G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004333.6:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]