RGD:13434948 Rat Genome Database

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Variant: RGD:13434948 -  Homo sapiens

RGD ID: 13434948
RS ID: rs977790637
ClinVar ID: CV431736
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNV2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 2,718,301
GRCh38 9 2,718,301
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.5776T>A
NC_000009.12:g.2718301T>A
NC_000009.11:g.2718301T>A
NM_133497.2:c.562T>A
More... 		03/02/2023 missense variant likely 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: W to R (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKQSERRRSWSYRPWNTTENEGSQHRRSICSLGARSGSQASIHGWTEGNYNYYIEEDEDGEEEDQWKDDLAEEDQQAGE
VTTAKPEGPSDPPALLSTLNVNVGGHSYQLDYCELAGFPKTRLGRLATSTSRSRQLSLCDDYEEQTDEYFFDRDPAVFQL
VYNFYLSGVLLVLDGLCPRRFLEELGYRGVRLKYTPRCCRICFEERRDELSERLKIQHELRAQAQVEEAEELFRDMRFYG
PQRRRLWNLMEKPFSSVAAKAIGVASSTFVLVSVVALALNTVEEMQQHSGQGEGGPDLRPILEHVEMLCMGFFTLEYLLR
LASTPDLRRFARSALNLVDLVAILPLYLQLLLECFTGEGHQRGQTVGSVGKVGQVLRVMRLMRIFRILKLARHSTGLRAF
GFTLRQCYQQVGCLLLFIAMGIFTFSAAVYSVEHDVPSTNFTTIPHSWWWAAVSISTVGYGDMYPETHLGRFFAFLCIAF
GIILNGMPISILYNKFSDYYSKLKAYEYTTIRRERGEVNFMQRARKKIAECLLGSNPQLTPRQEN*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28041643  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000504647 CLINVAR
  RCV003409714 CLINVAR
dbSNP (RS) rs977790637 CLINVAR
MedGen C0854723 CLINVAR
NCBI Gene KCNV2 CLINVAR
OMIM 607604 CLINVAR
SNOMED CT 314407005 CLINVAR