RGD:9480347 Rat Genome Database

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Variant: RGD:9480347 -  Homo sapiens

RGD ID: 9480347
RS ID: rs145731729
ClinVar ID: CV152880
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNV2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 2,717,819
GRCh38 9 2,717,819
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012181.1:g.5294G>A
NC_000009.12:g.2717819G>A
NC_000009.11:g.2717819G>A
NP_598004.1:p.Arg27His
More... 		05/28/2019 missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance adolescent <1 / 1 000 000 CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES; none provided; RETINAL CONE DYSTROPHY; 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: R to H (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKQSERRRSWSYRPWNTTENEGSQHHRSICSLGARSGSQASIHGWTEGNYNYYIEEDEDGEEEDQWKDDLAEEDQQAGE
VTTAKPEGPSDPPALLSTLNVNVGGHSYQLDYCELAGFPKTRLGRLATSTSRSRQLSLCDDYEEQTDEYFFDRDPAVFQL
VYNFYLSGVLLVLDGLCPRRFLEELGYWGVRLKYTPRCCRICFEERRDELSERLKIQHELRAQAQVEEAEELFRDMRFYG
PQRRRLWNLMEKPFSSVAAKAIGVASSTFVLVSVVALALNTVEEMQQHSGQGEGGPDLRPILEHVEMLCMGFFTLEYLLR
LASTPDLRRFARSALNLVDLVAILPLYLQLLLECFTGEGHQRGQTVGSVGKVGQVLRVMRLMRIFRILKLARHSTGLRAF
GFTLRQCYQQVGCLLLFIAMGIFTFSAAVYSVEHDVPSTNFTTIPHSWWWAAVSISTVGYGDMYPETHLGRFFAFLCIAF
GIILNGMPISILYNKFSDYYSKLKAYEYTTIRRERGEVNFMQRARKKIAECLLGSNPQLTPRQEN*
Variant Samples
Additional References at PubMed
PMID:23885164   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000132690 CLINVAR
  RCV000490298 CLINVAR
  RCV000988139 CLINVAR
  RCV003917427 CLINVAR
dbSNP (RS) rs145731729 CLINVAR
MedGen C1835897 CLINVAR
  C1865869 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNV2 CLINVAR
OMIM 602093 CLINVAR
  607604 CLINVAR
  610356 CLINVAR