RGD:126908030 Rat Genome Database

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Variant: RGD:126908030 -  Homo sapiens

RGD ID: 126908030
RS ID: rs2112040583
ClinVar ID: CV1043604
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCN1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 45,396,608
GRCh38 5 45,396,506
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021072.4:c.1216C>G
NG_042183.1:g.304613C>G
NC_000005.9:g.45396608G>C
NP_066550.2:p.Gln406Glu
More... 		09/24/2020 missense variant 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:HCN1
Accession:NM_021072
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFKVDGGGGGGGGGGGGEEPAGG
FEDAEGPRRQYGFMQRQFTSMLQPGVNKFSLRMFGSQKAVEKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVII
PVGITFFTEQTTTPWIIFNVASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVE
KGMDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIFNLIGMMLLLCHWDGCLQFLVP
LLQDFPPDCWVSLNEMVNDSWGKQYSYALFKAMSHMLCIGYGAQAPVSMSDLWITMLSMIVGATCYAMFVGHATALIQSL
DSSRREYQEKYKQVEQYMSFHKLPADMRQKIHDYYEHRYQGKIFDEENILNELNDPLREEIVNFNCRKLVATMPLFANAD
PNFVTAMLSKLRFEVFQPGDYIIREGAVGKKMYFIQHGVAGVITKSSKEMKLTDGSYFGEICLLTKGRRTASVRADTYCR
LYSLSVDNFNEVLEEYPMMRRAFETVAIDRLDRIGKKNSILLQKFQKDLNTGVFNNQENEILKQIVKHDREMVQAIAPIN
YPQMTTLNSTSSTTTPTSRMRTQSPPVYTATSLSHSNLHSPSPSTQTPQPSAILSPCSYTTAVCSPPVQSPLAARTFHYA
SPTASQLSLMQQQPQQQVQQSQPPQTQPQQPSPQPQTPGSSTPKNEVHKSTQALHNTNLTREVRPLSASQPSLPHEVSTL
ISRPHPTVGESLASIPQPVTAVPGTGLQAGGRSTVPQRVTLFRQMSSGAIPPNRGVPPAPPPPAAALPRESSSVLNTDPD
AEKPRFASNL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001367508 CLINVAR
dbSNP (RS) rs2112040583 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene HCN1 CLINVAR
OMIM 602780 CLINVAR
SNOMED CT 230429005 CLINVAR