RGD:11544592 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:11544592 -  Homo sapiens

RGD ID: 11544592
RS ID: rs3213926
ClinVar ID: CV256643
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMCHD1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 2,777,923
GRCh38 18 2,777,925
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_031972.1:g.127038A>G
NC_000018.10:g.2777925A>G
NC_000018.9:g.2777923A>G
NM_015295.3:c.5476+10A>G
More... 		03/24/2021 intron variant benign AllHighlyPenetrant; Arhinia choanal atresia microphthalmia; Arhinia, choanal atresia, and microphthalmia; ARHINIA, CHOANAL ATRESIA, MICROPHTHALMIA, AND HYPOGONADOTROPIC HYPOGONADISM; Bosma Henkin Christiansen syndrome; Congenital absence of nose and anterior nasopharynx; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC; FSHD2, DIGENIC; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1B; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMCHD1
Accession:XM_047437429
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437428
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437425
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437426
Location:INTRON

Gene Symbol:SMCHD1
Accession:NM_015295
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_011525642
Location:INTRON

Gene Symbol:SMCHD1
Accession:XM_047437427
Location:INTRON

Gene Symbol:SMCHD1
Accession:XR_007066135
Location:INTRON;NON-CODING

Gene Symbol:SMCHD1
Accession:XR_001753172
Location:INTRON;NON-CODING

Gene Symbol:SMCHD1
Accession:XR_935055
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000243996 CLINVAR
  RCV001510271 CLINVAR
  RCV001597017 CLINVAR
  RCV001808712 CLINVAR
dbSNP (RS) rs3213926 CLINVAR
MedGen C1834671 CLINVAR
  C1863878 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SMCHD1 CLINVAR
OMIM 158901 CLINVAR
  603457 CLINVAR
  614982 CLINVAR
SNOMED CT 720511000 CLINVAR