RGD:11599611 Rat Genome Database

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Variant: RGD:11599611 -  Homo sapiens

RGD ID: 11599611
RS ID: rs10967769
ClinVar ID: CV312429
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNV2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 2,729,897
GRCh38 9 2,729,897
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.17372A>G
NC_000009.12:g.2729897A>G
NC_000009.11:g.2729897A>G
NM_133497.4:c.*170A>G
More... 		06/14/2016 3 prime utr variant likely benign 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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000267206 CLINVAR
dbSNP (RS) rs10967769 CLINVAR
MedGen C1835897 CLINVAR
NCBI Gene KCNV2 CLINVAR
OMIM 607604 CLINVAR
  610356 CLINVAR