RGD:34896160 Rat Genome Database

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Variant: RGD:34896160 -  Homo sapiens

RGD ID: 34896160
RS ID: rs1848763448
ClinVar ID: CV917083
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNC1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 17,757,687
GRCh38 11 17,736,140
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_004967.1:p.Phe46Leu
NM_001112741.2:c.138C>G
NM_004976.4:c.138C>G
NG_041827.1:g.5193C>G
More... 		10/29/2019 missense variant uncertain significance AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNC1
Accession:NM_001112741
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHLDYDPRADEFFFDRHPGVFAHILNYYRTGKLHCPA
DVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDS
PDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPIVNKTEIENVRNGTQVRYYREAE
TEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILR
IFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTT
LGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPH
HSTQSDTCPLAQEEILEINRADSKLNGEVAKAALANEDCPHIDQALTPDEGLPFTRSGTRERYGPCFLLSTGEYACPPGG
GMRKDLCKESPVIAKYMPTEAVRVT*

Gene Symbol:KCNC1
Accession:NM_004976
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHLDYDPRADEFFFDRHPGVFAHILNYYRTGKLHCPA
DVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDS
PDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPIVNKTEIENVRNGTQVRYYREAE
TEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILR
IFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTT
LGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPH
HSTQSDTCPLAQEEILEINRAGRKPLRGMSI*

Gene Symbol:KCNC1
Accession:XM_047426916
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHLDYDPRADEFFFDRHPGVFAHILNYYRTGKLHCPA
DVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDS
PDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPIVNKTEIENVRNGTQVRYYREAE
TEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILR
IFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTT
LGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPH
HSTQSDTCPLAQEEILEINRAGISKEQMTQRRMTALSKKECQMLISAHFKPGNHL*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001193480 CLINVAR
  RCV001208466 CLINVAR
dbSNP (RS) rs1848763448 CLINVAR
MedGen C4015420 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNC1 CLINVAR
OMIM 176258 CLINVAR
  616187 CLINVAR