RGD:21404417 Rat Genome Database

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Variant: RGD:21404417 -  Homo sapiens

RGD ID: 21404417
ClinVar ID: CV802001
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNC1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 17,793,935
GRCh38 11 17,772,388
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.17772388G>C
NC_000011.9:g.17793935G>C
NM_001112741.2:c.1294G>C
NM_004976.4:c.1294G>C
More... 		10/19/2018 missense variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNC1
Accession:NM_004976
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 432
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRHPGVFAHILNYYRTGKLHCPA
DVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDS
PDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPIVNKTEIENVRNGTQVRYYREAE
TEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILR
IFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTT
LGYGDMYPQTWSGMLVGALCALAGVLTIAMPLPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPH
HSTQSDTCPLAQEEILEINRAGRKPLRGMSI*

Gene Symbol:KCNC1
Accession:NM_001112741
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 432
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRHPGVFAHILNYYRTGKLHCPA
DVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDS
PDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPIVNKTEIENVRNGTQVRYYREAE
TEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILR
IFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTT
LGYGDMYPQTWSGMLVGALCALAGVLTIAMPLPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPH
HSTQSDTCPLAQEEILEINRADSKLNGEVAKAALANEDCPHIDQALTPDEGLPFTRSGTRERYGPCFLLSTGEYACPPGG
GMRKDLCKESPVIAKYMPTEAVRVT*

Gene Symbol:KCNC1
Accession:XM_047426916
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 432
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRHPGVFAHILNYYRTGKLHCPA
DVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDS
PDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPIVNKTEIENVRNGTQVRYYREAE
TEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILR
IFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTT
LGYGDMYPQTWSGMLVGALCALAGVLTIAMPLPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPH
HSTQSDTCPLAQEEILEINRAGISKEQMTQRRMTALSKKECQMLISAHFKPGNHL*

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001004755 CLINVAR
MedGen C4015420 CLINVAR
NCBI Gene KCNC1 CLINVAR
OMIM 176258 CLINVAR
  616187 CLINVAR