RGD:151730976 Rat Genome Database

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Variant: RGD:151730976 -  Homo sapiens

RGD ID: 151730976
RS ID: rs745355427
ClinVar ID: CV1241960
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHRNA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 175,618,324
GRCh38 2 174,753,596
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000079.4:c.685C>T
NM_001039523.3:c.760C>T
NG_008172.1:g.15877C>T
NC_000002.12:g.174753596G>A
More... 		09/13/2022 missense variant uncertain significance CMS IIa; MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; Myasthenic syndrome, congenital, type IIa
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHRNA1
Accession:NM_000079
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQLINVDEVNQIVTTNVRLKQQW
VDYNLKWNPDDYGGVKKIHIPSEKIWRPDLVLYNNADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVTHFPFDEQ
NCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPDTPYLDITYHFVMQCLPLYFIVNVII
PCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTVFLLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHH
RSPSTHVMPNWVRKVFIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVKSAIEGIK
YIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQQG*

Gene Symbol:CHRNA1
Accession:NM_001039523
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 254
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQLINVDEVNQIVTTNVRLKQGD
MVDLPRPSCVTLGVPLFSHLQNEQWVDYNLKWNPDDYGGVKKIHIPSEKIWRPDLVLYNNADGDFAIVKFTKVLLQYTGH
ITWTPPAIFKSYCEIIVTHFPFDEQNCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPD
TPYLDITYHFVMQCLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTVFLLVIVELIPSTSSAVPLIG
KYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRKVFIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKP
GPPPMGFHSPLIKHPEVKSAIEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQ
QG*

Gene Symbol:CHRNA1
Accession:XM_017003256
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 261
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFMCLEGGEKNLTVLVSSAVSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQLINVDEVNQIVTTN
VRLKQGDMVDLPRPSCVTLGVPLFSHLQNEQWVDYNLKWNPDDYGGVKKIHIPSEKIWRPDLVLYNNADGDFAIVKFTKV
LLQYTGHITWTPPAIFKSYCEIIVTHFPFDEQNCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSV
TYSCCPDTPYLDITYHFVMQCLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTVFLLVIVELIPSTS
SAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRKVFIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDI
SDISGKPGPPPMGFHSPLIKHPEVKSAIEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAG
RLIELNQQG*

Gene Symbol:CHRNA1
Accession:XM_017003257
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 236
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFMCLEGGEKNLTVLVSSAVSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQLINVDEVNQIVTTN
VRLKQQWVDYNLKWNPDDYGGVKKIHIPSEKIWRPDLVLYNNADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVT
HFPFDEQNCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPDTPYLDITYHFVMQCLPLY
FIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTVFLLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITV
IVINTHHRSPSTHVMPNWVRKVFIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVK
SAIEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQQG*
Variant Samples
Additional References at PubMed
PMID:23037934   PMID:25741916   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001844328 CLINVAR
  RCV003984863 CLINVAR
dbSNP (RS) rs745355427 CLINVAR
MedGen C1854678 CLINVAR
  C2931107 CLINVAR
NCBI Gene CHRNA1 CLINVAR
OMIM 100690 CLINVAR
  253290 CLINVAR
  601462 CLINVAR
SNOMED CT 60192008 CLINVAR