Variant #0000001273 (NC_000007.14:g.140753336A>T, NM_004333.5:c.1799T>A (BRAF))

Individual ID 00000257
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.140753336A>T
Published as V600E
Reference Wai Kien Yip et al. (2013), dbSNP, (OMIM 0001), ClinVar
DB-ID BRAF_000001 See all 3 reported entries
dbSNP ID rs113488022
Frequency 1
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-14 12:08:49 +08:00 (CST)
Date last edited 2021-08-30 13:25:58 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
BRAF NM_004333.5 +/. - c.1799T>A - r.(?) p.(Val600Glu) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000272 DNA SEQ BRAF 1 Nuur Athirah Binti Mohd Daud