RGD:26910052 Rat Genome Database

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Variant: RGD:26910052 -  Homo sapiens

RGD ID: 26910052
RS ID: rs751600925
ClinVar ID: CV856640
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNV2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 2,718,268
GRCh38 9 2,718,268
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_133497.4:c.529T>C
NG_012181.1:g.5743T>C
NC_000009.12:g.2718268T>C
NC_000009.11:g.2718268T>C
More... 		07/10/2019 missense variant pathogenic
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNV2
Accession:NM_133497
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKQSERRRSWSYRPWNTTENEGSQHRRSICSLGARSGSQASIHGWTEGNYNYYIEEDEDGEEEDQWKDDLAEEDQQAGE
VTTAKPEGPSDPPALLSTLNVNVGGHSYQLDYCELAGFPKTRLGRLATSTSRSRQLSLCDDYEEQTDEYFFDRDPAVFQL
VYNFYLSGVLLVLDGLRPRRFLEELGYWGVRLKYTPRCCRICFEERRDELSERLKIQHELRAQAQVEEAEELFRDMRFYG
PQRRRLWNLMEKPFSSVAAKAIGVASSTFVLVSVVALALNTVEEMQQHSGQGEGGPDLRPILEHVEMLCMGFFTLEYLLR
LASTPDLRRFARSALNLVDLVAILPLYLQLLLECFTGEGHQRGQTVGSVGKVGQVLRVMRLMRIFRILKLARHSTGLRAF
GFTLRQCYQQVGCLLLFIAMGIFTFSAAVYSVEHDVPSTNFTTIPHSWWWAAVSISTVGYGDMYPETHLGRFFAFLCIAF
GIILNGMPISILYNKFSDYYSKLKAYEYTTIRRERGEVNFMQRARKKIAECLLGSNPQLTPRQEN*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001074332 CLINVAR
dbSNP (RS) rs751600925 CLINVAR
MedGen C0854723 CLINVAR
NCBI Gene KCNV2 CLINVAR
OMIM 607604 CLINVAR
SNOMED CT 314407005 CLINVAR