ClinVar

NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

• Chr7: 140778011 (on Assembly GRCh38)
• Chr7: 140477811 (on Assembly GRCh37)

Preferred name:

NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn)

Other names:

p.K499N:AAA>AAC

HGVS:

• NC_000007.14:g.140778011T>G
• NG_007873.3:g.151754A>C
• NM_001354609.2:c.1497A>C
• NM_001374244.1:c.1617A>C
• NM_001374258.1:c.1617A>C
• NM_001378467.1:c.1506A>C
• NM_001378468.1:c.1497A>C
• NM_001378469.1:c.1431A>C
• NM_001378470.1:c.1395A>C
• NM_001378471.1:c.1386A>C
• NM_001378472.1:c.1341A>C
• NM_001378473.1:c.1341A>C
• NM_001378474.1:c.1497A>C
• NM_001378475.1:c.1233A>C
• NM_004333.6:c.1497A>CMANE SELECT
• NP_001341538.1:p.Lys499Asn
• NP_001361173.1:p.Lys539Asn
• NP_001361187.1:p.Lys539Asn
• NP_001365396.1:p.Lys502Asn
• NP_001365397.1:p.Lys499Asn
• NP_001365398.1:p.Lys477Asn
• NP_001365399.1:p.Lys465Asn
• NP_001365400.1:p.Lys462Asn
• NP_001365401.1:p.Lys447Asn
• NP_001365402.1:p.Lys447Asn
• NP_001365403.1:p.Lys499Asn
• NP_001365404.1:p.Lys411Asn
• NP_004324.2:p.Lys499Asn
• LRG_299t1:c.1497A>C
• LRG_299:g.151754A>C
• NC_000007.13:g.140477811T>G
• NM_004333.4:c.1497A>C
• P15056:p.Lys499Asn

This HGVS expression did not pass validation

Protein change:

K411N

Links:

UniProtKB: P15056#VAR_058625; dbSNP: rs397507476

NCBI 1000 Genomes Browser:

rs397507476

Molecular consequence:

• NM_001354609.2:c.1497A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374244.1:c.1617A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374258.1:c.1617A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378467.1:c.1506A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378468.1:c.1497A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378469.1:c.1431A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378470.1:c.1395A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378471.1:c.1386A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378472.1:c.1341A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378473.1:c.1341A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378474.1:c.1497A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378475.1:c.1233A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004333.6:c.1497A>C - missense variant - [Sequence Ontology: SO:0001583]