RGD:28883787 Rat Genome Database

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Variant: RGD:28883787 -  Homo sapiens

RGD ID: 28883787
RS ID: rs754107665
ClinVar ID: CV901825
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNV2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 2,718,559
GRCh38 9 2,718,559
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.820G>A
NG_012181.1:g.6034G>A
NC_000009.12:g.2718559G>A
NC_000009.11:g.2718559G>A
More... 		09/22/2017 missense variant uncertain significance CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES; none provided; Retinal cone dystrophy 3B
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNV2
Accession:NM_133497
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 274
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKQSERRRSWSYRPWNTTENEGSQHRRSICSLGARSGSQASIHGWTEGNYNYYIEEDEDGEEEDQWKDDLAEEDQQAGE
VTTAKPEGPSDPPALLSTLNVNVGGHSYQLDYCELAGFPKTRLGRLATSTSRSRQLSLCDDYEEQTDEYFFDRDPAVFQL
VYNFYLSGVLLVLDGLCPRRFLEELGYWGVRLKYTPRCCRICFEERRDELSERLKIQHELRAQAQVEEAEELFRDMRFYG
PQRRRLWNLMEKPFSSVAAKAIGVASSTFVLVSMVALALNTVEEMQQHSGQGEGGPDLRPILEHVEMLCMGFFTLEYLLR
LASTPDLRRFARSALNLVDLVAILPLYLQLLLECFTGEGHQRGQTVGSVGKVGQVLRVMRLMRIFRILKLARHSTGLRAF
GFTLRQCYQQVGCLLLFIAMGIFTFSAAVYSVEHDVPSTNFTTIPHSWWWAAVSISTVGYGDMYPETHLGRFFAFLCIAF
GIILNGMPISILYNKFSDYYSKLKAYEYTTIRRERGEVNFMQRARKKIAECLLGSNPQLTPRQEN*
Variant Samples
Additional References at PubMed
PMID:28224992   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001168305 CLINVAR
  RCV001341362 CLINVAR
dbSNP (RS) rs754107665 CLINVAR
MedGen C1835897 CLINVAR
  CN517202 CLINVAR
NCBI Gene KCNV2 CLINVAR
OMIM 607604 CLINVAR
  610356 CLINVAR