Variant #0000003042 (NC_000007.14:g.176429T>A, NM_004333.5:c.1799T>A (BRAF))

Individual ID 00000775
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.176429T>A
Published as -
Reference A A Mohamed Yusoff et al.(2021)
DB-ID BRAF_000001 See all 3 reported entries
dbSNP ID rs113488022
Frequency 11/50
Variant remarks BRAF V600E
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-07-11 15:59:49 +08:00 (CST)
Date last edited 2021-08-01 13:24:02 +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 +/. 15 c.1799T>A - r.(?) p.(Val600Glu) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000869 DNA PCR;SEQ BRAF 1 Nur Aisyah Athirah