RGD:10449876 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:10449876 -  Homo sapiens

RGD ID: 10449876
RS ID: rs201992088
ClinVar ID: CV215621
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EBP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 48,382,172
GRCh38 X 48,523,784
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007452.1:g.7009G>A
NC_000023.11:g.48523784G>A
NC_000023.10:g.48382172G>A
NP_006570.1:p.Ala5Thr
More... 		05/01/2023 missense variant benign|likely benign AllHighlyPenetrant; Chondrodysplasia punctata, X-linked dominant; Conrad Hunermann Happle syndrome; CONRADI-HUNERMANN-HAPPLE SYNDROME; Happle syndrome; Hunermann-Conradi Syndrome; MALE EBP DISORDER WITH NEUROLOGIC DEFECTS; MEND syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EBP
Accession:NM_006579
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTNTGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIE
GWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIY
GDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000203041 CLINVAR
  RCV002057044 CLINVAR
  RCV002503796 CLINVAR
  RCV002517351 CLINVAR
  RCV003937769 CLINVAR
dbSNP (RS) rs201992088 CLINVAR
MedGen C0282102 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene EBP CLINVAR
OMIM 300205 CLINVAR
  300960 CLINVAR
  302960 CLINVAR