RGD:11614068 Rat Genome Database

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Variant: RGD:11614068 -  Homo sapiens

RGD ID: 11614068
RS ID: rs781056597
ClinVar ID: CV336280
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 62,050,992
GRCh38 20 63,419,639
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_172106.3:c.1248-4513A>G
NM_172107.4:c.1281A>G
NG_009004.2:g.58002A>G
NC_000020.11:g.63419639T>C
More... 		10/09/2020 intron variant 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:KCNQ2
Accession:XM_017027845
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVHLPRWPCLGASSAAGDCTQHPGWLQCLSFPAPGRVLLPAPRTNCALLISSKGSPCRGPLCGCCPGRSSQKVSLKDRVF
SSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCP
CEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRIDMIVGPPPPSTPRHK
KYPTKGPTAPPRESPQYSPRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRM
GIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGH
GTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSIS
QSKENLDALNSCYAAVAPCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK*

Gene Symbol:KCNQ2
Accession:NM_172107
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 427
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNF
LYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGR
LKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGF
LCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKV
QEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSK
SGLAFRKDPPPEPSPSKGSPCRGPLCGCCPGRSSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKV
PKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLR
PYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFL
VNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQP
QSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGNLRDSDTSISIPSVDHEELER
SFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK*

Gene Symbol:KCNQ2
Accession:XM_017027844
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027843
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172106
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_004518
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027842
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_047440144
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172108
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_011528811
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_047440145
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_001382235
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027841
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172109
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000861150 CLINVAR
  RCV001613112 CLINVAR
  RCV002374584 CLINVAR
dbSNP (RS) rs781056597 CLINVAR
MedGen C0393706 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNQ2 CLINVAR
OMIM 602235 CLINVAR
SNOMED CT 230429005 CLINVAR