RGD:10408393 Rat Genome Database

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Variant: RGD:10408393 -  Homo sapiens

RGD ID: 10408393
RS ID: rs797045633
ClinVar ID: CV208621
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNC3  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 50,823,608
GRCh38 19 50,320,351
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004977.2:c.2171-2A>C
NG_008134.2:g.14027A>C
NC_000019.10:g.50320351T>G
NC_000019.9:g.50823608T>G
More... 		04/04/2014 intron variant|splice acceptor variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KCNC3
Accession:NM_004977
Location:INTRON

Gene Symbol:KCNC3
Accession:NM_001372305
Location:INTRON

Gene Symbol:KCNC3
Accession:NR_110912
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000193734 CLINVAR
dbSNP (RS) rs797045633 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KCNC3 CLINVAR
OMIM 176264 CLINVAR