RGD:11580161 Rat Genome Database

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Variant: RGD:11580161 -  Homo sapiens

RGD ID: 11580161
RS ID: rs782580208
ClinVar ID: CV276962
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA5  LOC102723321  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 147,230,994
GRCh38 1 147,758,886
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_181703.4:c.353G>A
NG_009369.2:g.19489G>A
NC_000001.11:g.147758886C>T
NC_000001.10:g.147230994C>T
More... 		06/14/2016 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_181703
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVL
QIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVQGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIR
TTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVK
PRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQK
PEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV*

Gene Symbol:GJA5
Accession:NM_005266
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVL
QIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVQGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIR
TTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVK
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 RCV000324845 CLINVAR
  RCV002522053 CLINVAR
dbSNP (RS) rs782580208 CLINVAR
MedGen C3279693 CLINVAR
  C4551959 CLINVAR
NCBI Gene GJA5 CLINVAR
OMIM 108770 CLINVAR
  121013 CLINVAR
  614049 CLINVAR