RGD:39456595 Rat Genome Database

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Variant: RGD:39456595 -  Homo sapiens

RGD ID: 39456595
RS ID: rs372513869
ClinVar ID: CV965784
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BET1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 93,625,626
GRCh38 7 93,996,314
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001317739.2:c.152T>G
NM_005868.6:c.152T>G
NP_005859.1:p.Ile51Ser
NC_000007.14:g.93996314A>C
More... 		02/06/2024 missense variant pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BET1
Accession:NM_001317739
Location:EXON
Amino Acid Prediction: I to S (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRAGLGEGVPPGNYGNYGYANSGYSACEEENERLTESLRSKVTAIKSLSSEIGHEVKTQNKLLAEMDSQFDSTTGFLGL
CPM*

Gene Symbol:BET1
Accession:NM_005868
Location:EXON
Amino Acid Prediction: I to S (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRAGLGEGVPPGNYGNYGYANSGYSACEEENERLTESLRSKVTAIKSLSSEIGHEVKTQNKLLAEMDSQFDSTTGFLGK
TMGKLKILSRGSQTKLLCYMMLFSLFVFFIIYWIIKLR*

Gene Symbol:BET1
Accession:NR_133909
Location:EXON;NON-CODING

Gene Symbol:BET1
Accession:NR_133908
Location:EXON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:34779586  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001255430 CLINVAR
  RCV003494572 CLINVAR
dbSNP (RS) rs372513869 CLINVAR
MedGen C1850840 CLINVAR
  C3661900 CLINVAR
NCBI Gene BET1 CLINVAR
OMIM 254100 CLINVAR
  605456 CLINVAR
OMIM Allele 605456.0003 CLINVAR