RGD:11622774 Rat Genome Database

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Variant: RGD:11622774 -  Homo sapiens

RGD ID: 11622774
RS ID: rs3741930
ClinVar ID: CV325380
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 5,153,147
GRCh38 12 5,043,981
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002234.3:c.-167C>T
NG_012198.1:g.5063C>T
NC_000012.12:g.5043981C>T
NC_000012.11:g.5153147C>T
More... 		01/12/2018 5 prime utr variant benign|likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNA5
Accession:NM_002234
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000364132 CLINVAR
  RCV001534965 CLINVAR
dbSNP (RS) rs3741930 CLINVAR
MedGen C2677106 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNA5 CLINVAR
OMIM 176267 CLINVAR
  612240 CLINVAR