RGD:401783412 Rat Genome Database

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Variant: RGD:401783412 -  Homo sapiens

RGD ID: 401783412
ClinVar ID: CV2723545
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRAPPC3L  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 116,821,696
GRCh38 6 116,500,533
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001139444.3:c.374C>T
NC_000006.12:g.116500533G>A
NC_000006.11:g.116821696G>A
NM_001139444.2:c.374C>T
More... 		06/12/2023 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:TRAPPC3L
Accession:NM_001139444
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRPAHRRPEYHKINKDLFVLTYGALVAQLCKDYEKDEDVNQYLDKMGYGIGTRLVEDFLARSCVGRCHSYSEIIDIIAQ
VAFKMYLGITPSVTCNNSSKNEFSLILEKNPLVEFVEELPAGRSFLCYCNLLCGIIRGALEMVHLAADVTFLQDRLKGDS
VTEIGITFLKKRDEKKYRGKK*
.


Database
Acc Id
Source(s)
ClinVar RCV004323947 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TRAPPC3L CLINVAR
OMIM 614137 CLINVAR