Evidence Detail for BRAF

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Basic Information Top
Gene Symbol:BRAF ( B-RAF1,BRAF1,FLJ95109,MGC126806,MGC138284,RAFB1 )
Gene Full Name: v-raf murine sarcoma viral oncogene homolog B1
Band: 7q34
Quick LinksEntrez ID:673; OMIM: 164757; Uniprot ID:BRAF_HUMAN; ENSEMBL ID: ENSG00000157764
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMCardiofaciocutaneous syndrome (115150)
DescriptionCardio-facio-cutaneous syndrome is caused by gain of function mutations in KRAS, BRAF, MEK1, or MEK2. CFC syndrome shows phenotypic overlap with Noonan syndrome and Costello syndrome. Among patients with CFC syndrome, 23% (5/22) have autism/autistic features
Reference(s)19953625; 17704260; 18456719; 18039235;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000020 7q34 7 D7S684 2.26 - - Bailey, 1998

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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