RGD:12791977 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:12791977 -  Homo sapiens

RGD ID: 12791977
RS ID: rs1057519605
ClinVar ID: CV362517
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105371567  MYO15A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 18,058,072
GRCh38 17 18,154,758
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_011634.1:g.51053A>G
NC_000017.11:g.18154758A>G
NC_000017.10:g.18058072A>G
NM_016239.4:c.8224+3A>G
More... 		03/01/2016 intron variant likely pathogenic|uncertain significance infancy Autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive nonsyndromic deafness; Deafness, autosomal recessive; Deafness, autosomal recessive 3; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYO15A
Accession:NM_016239
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_024450781
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_024450780
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_017024715
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_017024714
Location:INTRON

Gene Symbol:MYO15A
Accession:XM_011523918
Location:INTRON

Gene Symbol:LOC105371567
Accession:XR_001752810
Location:INTRON;NON-CODING

Gene Symbol:MYO15A
Accession:XR_934039
Location:INTRON;NON-CODING

Gene Symbol:LOC105371567
Accession:XR_001752809
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:30303587  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000417149 CLINVAR
  RCV001291112 CLINVAR
dbSNP (RS) rs1057519605 CLINVAR
MedGen C1838263 CLINVAR
  C1846647 CLINVAR
NCBI Gene MYO15A CLINVAR
OMIM 600316 CLINVAR
  602666 CLINVAR
  607197 CLINVAR