RGD:13810215 Rat Genome Database

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Variant: RGD:13810215 -  Homo sapiens

RGD ID: 13810215
RS ID: rs531563186
ClinVar ID: CV577190
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 17,801,155
GRCh38 11 17,779,608
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_041827.1:g.48661G>A
NC_000011.10:g.17779608G>A
NC_000011.9:g.17801155G>A
NP_001106212.1:p.Glu553Lys
More... 		05/31/2018 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNC1
Accession:NM_001112741
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 553
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRHPGVFAHILNYYRTGKLHCPA
DVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDS
PDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPIVNKTEIENVRNGTQVRYYREAE
TEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILR
IFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTT
LGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPH
HSTQSDTCPLAQEEILEINRADSKLNGEVAKAALANEDCPHIDQALTPDEGLPFTRSGTRERYGPCFLLSTGKYACPPGG
GMRKDLCKESPVIAKYMPTEAVRVT*

Gene Symbol:KCNC1
Accession:NM_004976
Location:INTRON

Gene Symbol:KCNC1
Accession:XM_047426916
Location:INTRON

Gene Symbol:KCNC1
Accession:XR_930866
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000712114 CLINVAR
  RCV002532928 CLINVAR
dbSNP (RS) rs531563186 CLINVAR
MedGen C3661900 CLINVAR
  C4015420 CLINVAR
NCBI Gene KCNC1 CLINVAR
OMIM 176258 CLINVAR
  616187 CLINVAR