RGD:11610474 Rat Genome Database

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Variant: RGD:11610474 -  Homo sapiens

RGD ID: 11610474
RS ID: rs534563578
ClinVar ID: CV318653
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNV2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 2,718,848
GRCh38 9 2,718,848
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.6323G>C
NC_000009.12:g.2718848G>C
NC_000009.11:g.2718848G>C
NP_598004.1:p.Gly370Ala
More...
06/14/2016 missense variant uncertain significance childhood 1-9 / 100 000 CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES; 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: G to A (nonsynonymous)
Amino Acid Position: 370
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKQSERRRSWSYRPWNTTENEGSQHRRSICSLGARSGSQASIHGWTEGNYNYYIEEDEDGEEEDQWKDDLAEEDQQAGE
VTTAKPEGPSDPPALLSTLNVNVGGHSYQLDYCELAGFPKTRLGRLATSTSRSRQLSLCDDYEEQTDEYFFDRDPAVFQL
VYNFYLSGVLLVLDGLCPRRFLEELGYWGVRLKYTPRCCRICFEERRDELSERLKIQHELRAQAQVEEAEELFRDMRFYG
PQRRRLWNLMEKPFSSVAAKAIGVASSTFVLVSVVALALNTVEEMQQHSGQGEGGPDLRPILEHVEMLCMGFFTLEYLLR
LASTPDLRRFARSALNLVDLVAILPLYLQLLLECFTGEGHQRGQTVGSVAKVGQVLRVMRLMRIFRILKLARHSTGLRAF
GFTLRQCYQQVGCLLLFIAMGIFTFSAAVYSVEHDVPSTNFTTIPHSWWWAAVSISTVGYGDMYPETHLGRFFAFLCIAF
GIILNGMPISILYNKFSDYYSKLKAYEYTTIRRERGEVNFMQRARKKIAECLLGSNPQLTPRQEN*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000381860 CLINVAR
dbSNP (RS) rs534563578 CLINVAR
MedGen C1835897 CLINVAR
NCBI Gene KCNV2 CLINVAR
OMIM 607604 CLINVAR
  610356 CLINVAR