RGD:405165160 Rat Genome Database

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Variant: RGD:405165160 -  Homo sapiens

RGD ID: 405165160
ClinVar ID: CV2933355
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BRAF  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 140,439,753
GRCh38 7 140,739,953
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378475.1:c.1729-7T>G
NM_001378472.1:c.1837-7T>G
NM_001378473.1:c.1837-7T>G
NM_001378471.1:c.1882-7T>G
More... 		10/23/2023 intron variant likely benign Noonan spectrum disorder; rasopathies
Disease Annotations     Click to see Annotation Detail View
RASopathy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:BRAF
Accession:XM_047420767
Location:3UTRS;INTRON

Gene Symbol:BRAF
Accession:NM_004333
Location:INTRON

Gene Symbol:BRAF
Accession:XM_017012559
Location:INTRON

Gene Symbol:BRAF
Accession:NM_001354609
Location:INTRON

Gene Symbol:BRAF
Accession:NM_001374258
Location:INTRON

Gene Symbol:BRAF
Accession:NM_001374244
Location:INTRON

Gene Symbol:BRAF
Accession:NM_001378474
Location:INTRON

Gene Symbol:BRAF
Accession:NM_001378470
Location:INTRON

Gene Symbol:BRAF
Accession:NM_001378475
Location:INTRON

Gene Symbol:BRAF
Accession:NM_001378471
Location:INTRON

Gene Symbol:BRAF
Accession:NM_001378468
Location:INTRON

Gene Symbol:BRAF
Accession:NM_001378467
Location:INTRON

Gene Symbol:BRAF
Accession:NM_001378472
Location:INTRON

Gene Symbol:BRAF
Accession:NM_001378469
Location:INTRON

Gene Symbol:BRAF
Accession:NM_001378473
Location:INTRON

Gene Symbol:BRAF
Accession:XM_047420766
Location:INTRON

Gene Symbol:BRAF
Accession:XM_047420770
Location:INTRON

Gene Symbol:BRAF
Accession:XM_047420768
Location:INTRON

Gene Symbol:BRAF
Accession:XM_047420769
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003540455 CLINVAR
MedGen C5555857 CLINVAR
NCBI Gene BRAF CLINVAR
OMIM 164757 CLINVAR