RGD:405207911 Rat Genome Database

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Variant: RGD:405207911 -  Homo sapiens

RGD ID: 405207911
ClinVar ID: CV3145622
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNH5  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 63,175,125
GRCh38 14 62,708,407
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_172375.3:c.*35C>G
NM_139318.5:c.2068C>G
NG_034062.1:g.341832C>G
NG_034062.2:g.342051C>G
More... 		10/04/2023 3 prime utr variant uncertain significance Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003845352 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene KCNH5 CLINVAR
OMIM 605716 CLINVAR
SNOMED CT 230429005 CLINVAR