rs368180843 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Variant: rs368180843 -  Homo sapiens

RGD ID: 127300063
RS ID: rs368180843
ClinVar ID: CV1157116
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJA3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 20,716,342
GRCh38 13 20,142,203
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021954.4:c.1086C>A
NG_016399.1:g.23842C>A
NC_000013.11:g.20142203G>T
NC_000013.10:g.20716342G>T
More... 		07/10/2024 synonymous variant benign CATARACT 14, COPPOCK-LIKE; CATARACT 14, EMBRYONAL NUCLEAR; CATARACT 14, NUCLEAR CORALLIFORM; CATARACT 14, NUCLEAR PULVERULENT; CATARACT 14, NUCLEAR PULVERULENT AND POSTERIOR POLAR; CATARACT 14, ZONULAR PULVERULENT; GJA3-related condition; none provided; Zonular pulverulent cataract 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJA3
Accession:NM_021954
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPGCENVCYDRAFPISHIRFWAL
QIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESPSPKEPPQDNPSSRDDRGRVRMAGALLRTYVFNIIFKTLFE
VGFIAGQYFLYGFELKPLYRCDRWPCPNTVDCFISRPTEKTIFIIFMLAVACASLLLNMLEIYHLGWKKLKQGVTSRLGP
DASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTAAPLGQARAVGYPGAPPPAADFKLLALTEARGKGQSAKLYNGHHH
LLMTEQNWANQAAERQPPALKAYPAASTPAAPSPVGSSSPPLAHEAEAGAAPLLLDGSGSSLEGSALAGTPEEEEQAVTT
AAQMHQPPLPLGDPGRASKASRASSGRARPEDLAI*

Gene Symbol:GJA3
Accession:XM_011535048
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPGCENVCYDRAFPISHIRFWAL
QIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESPSPKEPPQDNPSSRDDRGRVRMAGALLRTYVFNIIFKTLFE
VGFIAGQYFLYGFELKPLYRCDRWPCPNTVDCFISRPTEKTIFIIFMLAVACASLLLNMLEIYHLGWKKLKQGVTSRLGP
DASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTAAPLGQARAVGYPGAPPPAADFKLLALTEARGKGQSAKLYNGHHH
LLMTEQNWANQAAERQPPALKAYPAASTPAAPSPVGSSSPPLAHEAEAGAAPLLLDGSGSSLEGSALAGTPEEEEQAVTT
AAQMHQPPLPLGDPGRASKASRASSGRARPEDLAI*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001513958 CLINVAR
  RCV004707638 CLINVAR
  RCV004756261 CLINVAR
dbSNP (RS) rs368180843 CLINVAR
MedGen C1866078 CLINVAR
  C3661900 CLINVAR
NCBI Gene GJA3 CLINVAR
OMIM 121015 CLINVAR
  601885 CLINVAR