RGD:405187440 Rat Genome Database

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Variant: RGD:405187440 -  Homo sapiens

RGD ID: 405187440
ClinVar ID: CV3156518
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNH5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 63,473,073
GRCh38 14 63,006,355
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.8:g.63473073G>A
NM_139318.5:c.304+11C>T
NM_172375.3:c.304+11C>T
NG_034062.1:g.43884C>T
More... 		03/08/2023 intron variant likely benign 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 RCV003859396 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene KCNH5 CLINVAR
OMIM 605716 CLINVAR
SNOMED CT 230429005 CLINVAR