RGD:156135239 Rat Genome Database

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Variant: RGD:156135239 -  Homo sapiens

RGD ID: 156135239
ClinVar ID: CV2113273
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA5  LOC102723321  LOC122128420  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 147,230,697
GRCh38 1 147,758,589
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005266.7:c.650T>C
NM_181703.4:c.650T>C
NG_009369.2:g.19786T>C
NG_076440.1:g.309A>G
More... 		12/24/2021 missense variant uncertain significance ATRIAL CARDIOMYOPATHY WITH HEART BLOCK; Atrial fibrillation, familial, 11; Atrial standstill, digenic (GJA5/SCN5A); CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJA5
Accession:NM_005266
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVL
QIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIR
TTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAARSLLLSLAELYHLGWKKIRQRFVK
PRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQK
PEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV*

Gene Symbol:GJA5
Accession:NM_181703
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVL
QIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIR
TTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAARSLLLSLAELYHLGWKKIRQRFVK
PRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQK
PEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002928352 CLINVAR
MedGen C4551959 CLINVAR
NCBI Gene GJA5 CLINVAR
  LOC122128420 CLINVAR
OMIM 108770 CLINVAR
  121013 CLINVAR
  614049 CLINVAR