ClinVar

NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

• Chr7: 140753336 (on Assembly GRCh38)
• Chr7: 140453136 (on Assembly GRCh37)
• Chr7: 140099605 (on Assembly NCBI36)

Preferred name:

NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)

HGVS:

• NC_000007.14:g.140753336A>T
• NG_007873.3:g.176429T>A
• NM_001354609.2:c.1799T>A
• NM_001374244.1:c.1919T>A
• NM_001374258.1:c.1919T>A
• NM_001378467.1:c.1808T>A
• NM_001378468.1:c.1799T>A
• NM_001378469.1:c.1733T>A
• NM_001378470.1:c.1697T>A
• NM_001378471.1:c.1688T>A
• NM_001378472.1:c.1643T>A
• NM_001378473.1:c.1643T>A
• NM_001378474.1:c.1799T>A
• NM_001378475.1:c.1535T>A
• NM_004333.6:c.1799T>AMANE SELECT
• NP_001341538.1:p.Val600Glu
• NP_001361173.1:p.Val640Glu
• NP_001361187.1:p.Val640Glu
• NP_001365396.1:p.Val603Glu
• NP_001365397.1:p.Val600Glu
• NP_001365398.1:p.Val578Glu
• NP_001365399.1:p.Val566Glu
• NP_001365400.1:p.Val563Glu
• NP_001365401.1:p.Val548Glu
• NP_001365402.1:p.Val548Glu
• NP_001365403.1:p.Val600Glu
• NP_001365404.1:p.Val512Glu
• NP_004324.2:p.Val600Glu
• NP_004324.2:p.Val600Glu
• LRG_299t1:c.1799T>A
• LRG_299:g.176429T>A
• LRG_299p1:p.Val600Glu
• NC_000007.12:g.140099605A>T
• NC_000007.13:g.140453136A>T
• NM_004333.4:c.1799T>A
• NM_004333:c.1799T>A
• P15056:p.Val600Glu
• c.1799T>A
• p.V600E

This HGVS expression did not pass validation

Protein change:

V512E; VAL600GLU

Links:

UniProtKB: P15056#VAR_018629; OMIM: 164757.0001; dbSNP: rs113488022

NCBI 1000 Genomes Browser:

rs113488022

Molecular consequence:

• NM_001354609.2:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374244.1:c.1919T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374258.1:c.1919T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378467.1:c.1808T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378468.1:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378469.1:c.1733T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378470.1:c.1697T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378471.1:c.1688T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378472.1:c.1643T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378473.1:c.1643T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378474.1:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378475.1:c.1535T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004333.6:c.1799T>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Increased function
• gain_of_function_variant [Sequence Ontology: SO:0002053]