RGD:13445907 Rat Genome Database

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Variant: RGD:13445907 -  Homo sapiens

RGD ID: 13445907
RS ID: rs760071472
ClinVar ID: CV438292
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCN1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 45,462,095
GRCh38 5 45,461,993
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.239126A>G
NC_000005.10:g.45461993T>C
NC_000005.9:g.45462095T>C
NP_066550.2:p.Thr288=
More... 		07/19/2022 synonymous variant likely benign|uncertain significance Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; none provided; 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: T to T (synonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFKVDGGGGGGGGGGGGEEPAGG
FEDAEGPRRQYGFMQRQFTSMLQPGVNKFSLRMFGSQKAVEKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVII
PVGITFFTEQTTTPWIIFNVASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVE
KGMDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIFNLIGMMLLLCHWDGCLQFLVP
LLQDFPPDCWVSLNEMVNDSWGKQYSYALFKAMSHMLCIGYGAQAPVSMSDLWITMLSMIVGATCYAMFVGHATALIQSL
DSSRRQYQEKYKQVEQYMSFHKLPADMRQKIHDYYEHRYQGKIFDEENILNELNDPLREEIVNFNCRKLVATMPLFANAD
PNFVTAMLSKLRFEVFQPGDYIIREGAVGKKMYFIQHGVAGVITKSSKEMKLTDGSYFGEICLLTKGRRTASVRADTYCR
LYSLSVDNFNEVLEEYPMMRRAFETVAIDRLDRIGKKNSILLQKFQKDLNTGVFNNQENEILKQIVKHDREMVQAIAPIN
YPQMTTLNSTSSTTTPTSRMRTQSPPVYTATSLSHSNLHSPSPSTQTPQPSAILSPCSYTTAVCSPPVQSPLAARTFHYA
SPTASQLSLMQQQPQQQVQQSQPPQTQPQQPSPQPQTPGSSTPKNEVHKSTQALHNTNLTREVRPLSASQPSLPHEVSTL
ISRPHPTVGESLASIPQPVTAVPGTGLQAGGRSTVPQRVTLFRQMSSGAIPPNRGVPPAPPPPAAALPRESSSVLNTDPD
AEKPRFASNL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000513010 CLINVAR
  RCV001865683 CLINVAR
dbSNP (RS) rs760071472 CLINVAR
MedGen C0393706 CLINVAR
  C3661900 CLINVAR
NCBI Gene HCN1 CLINVAR
OMIM 602780 CLINVAR
SNOMED CT 230429005 CLINVAR