RGD:28887005 Rat Genome Database

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Variant: RGD:28887005 -  Homo sapiens

RGD ID: 28887005
RS ID: rs147633417
ClinVar ID: CV901849
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNV2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 2,729,911
GRCh38 9 2,729,911
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_133497.4:c.*184C>T
NG_012181.1:g.17386C>T
NC_000009.12:g.2729911C>T
NC_000009.11:g.2729911C>T
More...
04/27/2017 3 prime utr variant benign 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 RCV001169224 CLINVAR
dbSNP (RS) rs147633417 CLINVAR
MedGen C1835897 CLINVAR
NCBI Gene KCNV2 CLINVAR
OMIM 607604 CLINVAR
  610356 CLINVAR