RGD:401861918 Rat Genome Database

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Variant: RGD:401861918 -  Homo sapiens

RGD ID: 401861918
ClinVar ID: CV2766497
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BORCS8  BORCS8-MEF2B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 19,296,901
GRCh38 19 19,186,092
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_027308.2:n.192A>G
NM_001145784.1:c.157A>G
NP_001139255.1:p.Met53Val
NP_001139256.1:p.Met53Val
More... 		07/12/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:BORCS8-MEF2B
Accession:NM_005919
Location:5UTRS;INTRON

Gene Symbol:BORCS8
Accession:NM_001145784
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEMQLKGKKVTDKFTESVYVLANEPSVALYRLQEHVRRSLPELAQHKADLQRWEEQSQGAIYTVEYACSAVKNLVDS
SVYFRSVEGLLKQAISIRDHMNASAQGHSPEEPPPPSSA*

Gene Symbol:BORCS8
Accession:NM_001145783
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPEMQLKGKKVTDKFTESVYVLANEPSVALYRLQEHVRRSLPELAQHKADLQRWEEQSQGAIYTVEYACSAVKNLVDS
SVYFRSVEGLLKQAISIRDHMNASAQGHR*

Gene Symbol:BORCS8-MEF2B
Accession:NR_027307
Location:EXON;NON-CODING

Gene Symbol:BORCS8-MEF2B
Accession:NR_027308
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004347120 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BORCS8 CLINVAR
  BORCS8-MEF2B CLINVAR
OMIM 616601 CLINVAR