RGD:13475611 Rat Genome Database

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Variant: RGD:13475611 -  Homo sapiens

RGD ID: 13475611
RS ID: rs55642950
ClinVar ID: CV455658
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 45,303,798
GRCh38 5 45,303,696
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_066550.2:p.Ala507=
NG_042183.1:g.397423C>T
NC_000005.10:g.45303696G>A
NC_000005.9:g.45303798G>A
More... 		09/21/2018 synonymous variant likely benign 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: A to A (synonymous)
Amino Acid Position: 507
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000526363 CLINVAR
  RCV002395348 CLINVAR
  RCV003884605 CLINVAR
  RCV003905357 CLINVAR
dbSNP (RS) rs55642950 CLINVAR
MedGen C0393706 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene HCN1 CLINVAR
OMIM 602780 CLINVAR
SNOMED CT 230429005 CLINVAR