RGD:11560089 Rat Genome Database

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Variant: RGD:11560089 -  Homo sapiens

RGD ID: 11560089
RS ID: rs139027297
ClinVar ID: CV259927
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNV2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 2,718,517
GRCh38 9 2,718,517
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012181.1:g.5992A>T
NC_000009.12:g.2718517A>T
NC_000009.11:g.2718517A>T
NP_598004.1:p.Lys260Ter
More... 		07/24/2023 nonsense pathogenic none provided
Disease Annotations     Click to see Annotation Detail View
cone dystrophy  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cone dystrophy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:KCNV2
Accession:NM_133497
Location:EXON
Amino Acid Prediction: K to * (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKQSERRRSWSYRPWNTTENEGSQHRRSICSLGARSGSQASIHGWTEGNYNYYIEEDEDGEEEDQWKDDLAEEDQQAGE
VTTAKPEGPSDPPALLSTLNVNVGGHSYQLDYCELAGFPKTRLGRLATSTSRSRQLSLCDDYEEQTDEYFFDRDPAVFQL
VYNFYLSGVLLVLDGLCPRRFLEELGYWGVRLKYTPRCCRICFEERRDELSERLKIQHELRAQAQVEEAEELFRDMRFYG
PQRRRLWNLMEKPFSSVAA*AIGVASSTFVLVSVVALALNTVEEMQQHSGQGEGGPDLRPILEHVEMLCMGFFTLEYLLR
LASTPDLRRFARSALNLVDLVAILPLYLQLLLECFTGEGHQRGQTVGSVGKVGQVLRVMRLMRIFRILKLARHSTGLRAF
GFTLRQCYQQVGCLLLFIAMGIFTFSAAVYSVEHDVPSTNFTTIPHSWWWAAVSISTVGYGDMYPETHLGRFFAFLCIAF
GIILNGMPISILYNKFSDYYSKLKAYEYTTIRRERGEVNFMQRARKKIAECLLGSNPQLTPRQEN*
Variant Samples
Additional References at PubMed
PMID:16909397   PMID:17896311   PMID:18235024   PMID:21882291   PMID:25741868   PMID:28492532   PMID:36909829  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000255665 CLINVAR
  RCV003324523 CLINVAR
dbSNP (RS) rs139027297 CLINVAR
MedGen C0730290 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNV2 CLINVAR
OMIM 607604 CLINVAR
SNOMED CT 312917007 CLINVAR