RGD:156378578 Rat Genome Database

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Variant: RGD:156378578 -  Homo sapiens

RGD ID: 156378578
ClinVar ID: CV2207756
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BDKRB1  LOC124903375  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 96,730,218
GRCh38 14 96,263,881
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000710.4:c.199C>T
NM_001386007.1:c.199C>T
NC_000014.9:g.96263881C>T
NC_000014.8:g.96730218C>T
More... 		07/13/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:BDKRB1
Accession:NM_001386007
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSWPPLELQSSNQSQLFPQNATACDNAPEAWDLLHRVLPTFIISICFFGLLGNLFVLLVFLLPRWQLNVAEIYLANLA
ASDLVFVLGLPFWAENIWNQFNWPFGALLCRVINGVIKANLFISIFLVVAISQDRYRVLVHPMASRRQQRRRQARVTCVL
IWVVGGLLSIPTFLLRSIQAVPDLNITACILLLPHEAWHFARIVELNILGFLLPLAAIVFFNYHILASLRTREEVSRTRC
GGRKDSKTTALILTLVVAFLVCWAPYHFFAFLEFLFQVQAVRGCFWEDFIDLGLQLANFFAFTNSSLNPVIYVFVGRLFR
TKVWELYKQCTPKSLAPISSSHRKEIFQLFWRN*

Gene Symbol:BDKRB1
Accession:NM_000710
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSWPPLELQSSNQSQLFPQNATACDNAPEAWDLLHRVLPTFIISICFFGLLGNLFVLLVFLLPRWQLNVAEIYLANLA
ASDLVFVLGLPFWAENIWNQFNWPFGALLCRVINGVIKANLFISIFLVVAISQDRYRVLVHPMASRRQQRRRQARVTCVL
IWVVGGLLSIPTFLLRSIQAVPDLNITACILLLPHEAWHFARIVELNILGFLLPLAAIVFFNYHILASLRTREEVSRTRC
GGRKDSKTTALILTLVVAFLVCWAPYHFFAFLEFLFQVQAVRGCFWEDFIDLGLQLANFFAFTNSSLNPVIYVFVGRLFR
TKVWELYKQCTPKSLAPISSSHRKEIFQLFWRN*

Gene Symbol:LOC124903375
Accession:XR_007064323
Location:INTRON;NON-CODING

Gene Symbol:LOC124903375
Accession:XR_007064322
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004084194 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BDKRB1 CLINVAR
OMIM 600337 CLINVAR