rs2148959125 Rat Genome Database

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Variant: rs2148959125 -  Homo sapiens

RGD ID: 151853127
RS ID: rs2148959125
ClinVar ID: CV1502138
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA5  LOC102723321  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 147,230,821
GRCh38 1 147,758,713
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.526G>A
NM_181703.4:c.526G>A
NG_009369.2:g.19662G>A
NG_076440.1:g.433C>T
More... 		03/18/2022 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: G to R (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVL
QIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIR
TTMEVGFIVGQYFIYRIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVK
PRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQK
PEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV*

Gene Symbol:GJA5
Accession:NM_005266
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAFPISHIRYWVL
QIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIR
TTMEVGFIVGQYFIYRIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVK
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 RCV001937618 CLINVAR
dbSNP (RS) rs2148959125 CLINVAR
MedGen C4551959 CLINVAR
NCBI Gene GJA5 CLINVAR
OMIM 108770 CLINVAR
  121013 CLINVAR
  614049 CLINVAR