RGD:28891920 Rat Genome Database

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Variant: RGD:28891920 -  Homo sapiens

RGD ID: 28891920
RS ID: rs1663814972
ClinVar ID: CV862177
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA5  LOC102723321  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 147,230,290
GRCh38 1 147,758,182
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005266.6:c.1057T>G
NM_005266.7:c.1057T>G
NP_005257.2:p.Ser353Ala
NC_000001.10:g.147230290A>C
More...
01/12/2018 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJA5
Accession:NM_005266
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 353
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVL
QIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIR
TTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVK
PRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQK
PEVPNGVSPGHRLPHGYHSDKRRLSKASSKARADDLSV*

Gene Symbol:GJA5
Accession:NM_181703
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 353
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVL
QIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIR
TTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVK
PRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQK
PEVPNGVSPGHRLPHGYHSDKRRLSKASSKARADDLSV*

Gene Symbol:LOC102723321
Accession:XR_922079
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001100362 CLINVAR
dbSNP (RS) rs1663814972 CLINVAR
MedGen C3279693 CLINVAR
NCBI Gene GJA5 CLINVAR
OMIM 121013 CLINVAR
  614049 CLINVAR