RGD:26894451 Rat Genome Database

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Variant: RGD:26894451 -  Homo sapiens

RGD ID: 26894451
RS ID: rs199592316
ClinVar ID: CV852003
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNH5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 63,483,546
GRCh38 14 63,016,828
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_139318.5:c.197+3A>G
NM_172375.3:c.197+3A>G
NG_034062.1:g.33411A>G
NC_000014.9:g.63016828T>C
More... 		06/09/2020 intron variant likely benign|uncertain significance Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNH5
Accession:NM_139318
Location:INTRON

Gene Symbol:KCNH5
Accession:XM_047431275
Location:INTRON

Gene Symbol:KCNH5
Accession:NM_172375
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001069324 CLINVAR
dbSNP (RS) rs199592316 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene KCNH5 CLINVAR
OMIM 605716 CLINVAR
SNOMED CT 230429005 CLINVAR