RGD:13435679 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   new 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

Variant: RGD:13435679 -  Homo sapiens

RGD ID: 13435679
RS ID: rs1554616630
ClinVar ID: CV432437
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: YWHAG  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 75,959,251
GRCh38 7 76,329,934
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.76329934G>C
NC_000007.13:g.75959251G>C
NP_036611.2:p.Asp129Glu
NM_012479.4:c.387C>G
More... 		10/26/2022 missense variant pathogenic|likely pathogenic EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:YWHAG
Accession:NM_012479
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDREQLVQKARLAEQAERYDDMAAAMKNVTELNEPLSNEERNLLSVAYKNVVGARRSSWRVISSIEQKTSADGNEKKIE
MVRAYREKIEKELEAVCQDVLSLLDNYLIKNCSETQYESKVFYLKMKGEYYRYLAEVATGEKRATVVESSEKAYSEAHEI
SKEHMQPTHPIRLGLALNYSVFYYEIQNAPEQACHLAKTAFDDAIAELDTLNEDSYKDSTLIMQLLRDNLTLWTSDQQDD
DGGEGNN*
Variant Samples
Additional References at PubMed
PMID:23934111   PMID:25741868   PMID:28492532   PMID:28777935  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000505692 CLINVAR
  RCV002524425 CLINVAR
dbSNP (RS) rs1554616630 CLINVAR
MedGen C3661900 CLINVAR
  C4540034 CLINVAR
NCBI Gene YWHAG CLINVAR
OMIM 605356 CLINVAR
  617665 CLINVAR
OMIM Allele 605356.0003 CLINVAR