RGD:11597942 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:11597942 -  Homo sapiens

RGD ID: 11597942
RS ID: rs16829782
ClinVar ID: CV291949
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARHGAP31  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 119,101,925
GRCh38 3 119,383,078
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007665.2:g.93706C>T
NC_000003.12:g.119383078C>T
NC_000003.11:g.119101925C>T
NM_020754.4:c.540-6C>T
 11/26/2020 intron variant benign ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL; Aplasia cutis congenita with terminal transverse defects of limbs, and skull defects; APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS; CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES; Forrest H Adams syndrome; none provided; Scalp and head syndrome; Scalp defects with ectrodactyly
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARHGAP31
Accession:NM_020754
Location:INTRON

Gene Symbol:ARHGAP31
Accession:XM_006713714
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001520207 CLINVAR
  RCV002259911 CLINVAR
dbSNP (RS) rs16829782 CLINVAR
MedGen C3661900 CLINVAR
  C4551482 CLINVAR
NCBI Gene ARHGAP31 CLINVAR
OMIM 100300 CLINVAR
  610911 CLINVAR