RGD:155996734 Rat Genome Database

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Variant: RGD:155996734 -  Homo sapiens

RGD ID: 155996734
ClinVar ID: CV2277440
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRAPPC3L  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 116,818,206
GRCh38 6 116,497,043
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001139444.3:c.457C>A
NC_000006.12:g.116497043G>T
NC_000006.11:g.116818206G>T
NM_001139444.2:c.457C>A
More... 		06/09/2022 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:TRAPPC3L
Accession:NM_001139444
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRPAHRRPEYHKINKDLFVLTYGALVAQLCKDYEKDEDVNQYLDKMGYGIGTRLVEDFLARSCVGRCHSYSEIIDIIAQ
VAFKMYLGITPSVTCNNSSKNEFSLILEKNPLVEFVEELPAGRSSLCYCNLLCGIIRGALEMVHLAADVTFLKDRLKGDS
VTEIGITFLKKRDEKKYRGKK*
.


Database
Acc Id
Source(s)
ClinVar RCV004144845 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TRAPPC3L CLINVAR
OMIM 614137 CLINVAR