rs1788580326 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: rs1788580326 -  Homo sapiens

RGD ID: 38459245
RS ID: rs1788580326
ClinVar ID: CV955106
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129998021  TWIST1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 19,156,512
GRCh38 7 19,116,889
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000465.1:p.Lys145Glu
NC_000007.13:g.19156512T>C
NR_149001.2:n.748A>G
NM_000474.3:c.433A>G
More... 		06/26/2021 missense variant pathogenic Acrocephalo-syndactyly, type 3; Acrocephaly, skull asymmetry, and mild syndactyly; ACS 3; ACS III; Chotzen syndrome; Craniosynostosis 1; Saethre-Chotzen syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TWIST1
Accession:NM_000474
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGVGGGDEPGSPAQGKRGKKSAG
CGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQRTQSLNEAFAALRKIIPTLPSDKLSEIQTLKLAARYIDFLY
QVLQSDELDSKMASCSYVAHERLSYAFSVWRMEGAWSMSASH*

Gene Symbol:TWIST1
Accession:NR_149001
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:10094188   PMID:10749989   PMID:11248247   PMID:17693524   PMID:28492532   PMID:30651579  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001246515 CLINVAR
dbSNP (RS) rs1788580326 CLINVAR
MedGen C4551902 CLINVAR
NCBI Gene LOC129998021 CLINVAR
  TWIST1 CLINVAR
OMIM 101400 CLINVAR
  123100 CLINVAR
  601622 CLINVAR
SNOMED CT 83015004 CLINVAR