RGD:12791894 Rat Genome Database

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Variant: RGD:12791894 -  Homo sapiens

RGD ID: 12791894
RS ID: rs1057519547
ClinVar ID: CV362328
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 45,396,652
GRCh38 5 45,396,550
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042183.1:g.304569G>A
NC_000005.10:g.45396550C>T
NC_000005.9:g.45396652C>T
NP_066550.2:p.Gly391Asp
More... 		01/01/2018 missense variant likely pathogenic Epileptic encephalopathy, early infantile, 24
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HCN1
Accession:NM_021072
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 391
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFKVDGGGGGGGGGGGGEEPAGG
FEDAEGPRRQYGFMQRQFTSMLQPGVNKFSLRMFGSQKAVEKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVII
PVGITFFTEQTTTPWIIFNVASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVE
KGMDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIFNLIGMMLLLCHWDGCLQFLVP
LLQDFPPDCWVSLNEMVNDSWGKQYSYALFKAMSHMLCIGYGAQAPVSMSDLWITMLSMIVGATCYAMFVDHATALIQSL
DSSRRQYQEKYKQVEQYMSFHKLPADMRQKIHDYYEHRYQGKIFDEENILNELNDPLREEIVNFNCRKLVATMPLFANAD
PNFVTAMLSKLRFEVFQPGDYIIREGAVGKKMYFIQHGVAGVITKSSKEMKLTDGSYFGEICLLTKGRRTASVRADTYCR
LYSLSVDNFNEVLEEYPMMRRAFETVAIDRLDRIGKKNSILLQKFQKDLNTGVFNNQENEILKQIVKHDREMVQAIAPIN
YPQMTTLNSTSSTTTPTSRMRTQSPPVYTATSLSHSNLHSPSPSTQTPQPSAILSPCSYTTAVCSPPVQSPLAARTFHYA
SPTASQLSLMQQQPQQQVQQSQPPQTQPQQPSPQPQTPGSSTPKNEVHKSTQALHNTNLTREVRPLSASQPSLPHEVSTL
ISRPHPTVGESLASIPQPVTAVPGTGLQAGGRSTVPQRVTLFRQMSSGAIPPNRGVPPAPPPPAAALPRESSSVLNTDPD
AEKPRFASNL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:30351409  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000416966 CLINVAR
  RCV000585842 CLINVAR
dbSNP (RS) rs1057519547 CLINVAR
MedGen C0543888 CLINVAR
  C4014531 CLINVAR
NCBI Gene HCN1 CLINVAR
OMIM 602780 CLINVAR
  615871 CLINVAR
OMIM Allele 602780.0007 CLINVAR