RGD:12890871 Rat Genome Database

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Variant: RGD:12890871 -  Homo sapiens

RGD ID: 12890871
RS ID: rs755980218
ClinVar ID: CV396706
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNT1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 138,594,151
GRCh38 9 135,702,305
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_033070.1:g.5121A>T
NC_000009.12:g.135702305A>T
NC_000009.11:g.138594151A>T
NP_065873.2:p.Glu16Val
More... 		09/06/2022 missense variant likely benign|uncertain significance infancy <1 / 1 000 000 Autosomal dominant nocturnal frontal lobe epilepsy 5; CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS; CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS; Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNT1
Accession:NM_020822
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPDGARTPGGVCRVARGGGYTNRTFEFDDGQCAPRRPCAGDGALLDTAGFKMSDLDSEVLPLPPRYRFRDLLLGDPSF
QNDDRVQVEFYVNENTFKERLKLFFIKNQRSSLRIRLFNFSLKLLTCLLYIVRVLLDDPALGIGCWGCPKQNYSFNDSSS
EINWAPILWVERKMTLWAIQVIVAIISFLETMLLIYLSYKGNIWEQIFRVSFVLEMINTLPFIITIFWPPLRNLFIPVFL
NCWLAKHALENMINDFHRAILRTQSAMFNQVLILFCTLLCLVFTGTCGIQHLERAGENLSLLTSFYFCIVTFSTVGYGDV
TPKIWPSQLLVVIMICVALVVLPLQFEELVYLWMERQKSGGNYSRHRAQTEKHVVLCVSSLKIDLLMDFLNEFYAHPRLQ
DYYVVILCPTEMDVQVRRVLQIPLWSQRVIYLQGSALKDQDLMRAKMDNGEACFILSSRNEVDRTAADHQTILRAWAVKD
FAPNCPLYVQILKPENKFHVKFADHVVCEEECKYAMLALNCICPATSTLITLLVHTSRGQEGQESPEQWQRMYGRCSGNE
VYHIRMGDSKFFREYEGKSFTYAAFHAHKKYGVCLIGLKREDNKSILLNPGPRHILAASDTCFYINITKEENSAFIFKQE
EKRKKRAFSGQGLHEGPARLPVHSIIASMGTVAMDLQGTEHRPTQSGGGGGGSKLALPTENGSGSRRPSIAPVLELADSS
ALLPCDLLSDQSEDEVTPSDDEGLSVVEYVKGYPPNSPYIGSSPTLCHLLPVKAPFCCLRLDKGCKHNSYEDAKAYGFKN
KLIIVSAETAGNGLYNFIVPLRAYYRSRKELNPIVLLLDNKPDHHFLEAICCFPMVYYMEGSVDNLDSLLQCGIIYADNL
VVVDKESTMSAEEDYMADAKTIVNVQTMFRLFPSLSITTELTHPSNMRFMQFRAKDSYSLALSKLEKRERENGSNLAFMF
RLPFAAGRVFSISMLDTLLYQSFVKDYMITITRLLLGLDTTPGSGYLCAMKITEGDLWIRTYGRLFQKLCSSSAEIPIGI
YRTESHVFSTSEPHDLRAQSQISVNVEDCEDTREVKGPWGSRAGTGGSSQGRHTGGGDPAEHPLLRRKSLQWARRLSRKA
PKQAGRAAAAEWISQQRLSLYRRSERQELSELVKNRMKHLGLPTTGYDEMNDHQNTLSYVLINPPPDTRLEPSDIVYLIR
SDPLAHVASSSQSRKSSCSHKLSSCNPETRDETQL*

Gene Symbol:KCNT1
Accession:NM_001272003
Location:EXON
Amino Acid Prediction: E to V (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPDGARTPGGVCRVARGGGYTNRTFEFDDGQCAPRVQVEFYVNENTFKERLKLFFIKNQRSSLRIRLFNFSLKLLTCL
LYIVRVLLDDPALGIGCWGCPKQNYSFNDSSSEINWAPILWVERKMTLWAIQVIVAIISFLETMLLIYLSYKGNIWEQIF
RVSFVLEMINTLPFIITIFWPPLRNLFIPVFLNCWLAKHALENMINDFHRAILRTQSAMFNQVLILFCTLLCLVFTGGCR
TCGIQHLERAGENLSLLTSFYFCIVTFSTVGYGDVTPKIWPSQLLVVIMICVALVVLPLQFEELVYLWMERQKSGGNYSR
HRAQTEKHVVLCVSSLKIDLLMDFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVLQIPLWSQRVIYLQGSALKDQDLMRA
KMDNGEACFILSSRNEVDRTAADHQTILRAWAVKDFAPNCPLYVQILKPENKFHVKFADHVVCEEECKYAMLALNCICPA
TSTLITLLVHTSRGQEGQESPEQWQRMYGRCSGNEVYHIRMGDSKFFREYEGKSFTYAAFHAHKKYGVCLIGLKREDNKS
ILLNPGPRHILAASDTCFYINITKEENSAFIFKQEEKRKKRAFSGQGLHEGPARLPVHSIIASMGTVAMDLQGTEHRPTQ
SGGGGGGSKLALPTENGSGSRRPSIAPVLELADSSALLPCDLLSDQSEDEVTPSDDEGLSVVEYVKGYPPNSPYIGSSPT
LCHLLPVKAPFCCLRLDKGCKHNSYEDAKAYGFKNKLIIVSAETAGNGLYNFIVPLRAYYRSRKELNPIVLLLDNKPDHH
FLEAICCFPMVYYMEGSVDNLDSLLQCGIIYADNLVVVDKESTMSAEEDYMADAKTIVNVQTMFRLFPSLSITTELTHPS
NMRFMQFRAKDSYSLALSKLEKRERENGSNLAFMFRLPFAAGRVFSISMLDTLLYQSFVKDYMITITRLLLGLDTTPGSG
YLCAMKITEGDLWIRTYGRLFQKLCSSSAEIPIGIYRTESHVFSTSEPHDLRAQSQISVNVEDCEDTREVKGPWGSRAGT
GGSSQGRHTGGGDPAEHPLLRRKSLQWARRLSRKAPKQAGRAAAAEWISQQRLSLYRRSERQELSELVKNRMKHLGLPTT
GYEDVANLTASDVMNRVNLGYLQDEMNDHQNTLSYVLINPPPDTRLEPSDIVYLIRSDPLAHVASSSQSRKSSCSHKLSS
CNPETRDETQL*

Gene Symbol:KCNT1
Accession:XM_024447618
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_024447617
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518879
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518881
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518880
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014931
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014932
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014933
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518878
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000475485 CLINVAR
dbSNP (RS) rs755980218 CLINVAR
MedGen C3554195 CLINVAR
NCBI Gene KCNT1 CLINVAR
OMIM 608167 CLINVAR
  614959 CLINVAR
  615005 CLINVAR