RGD:10403618 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:10403618 -  Homo sapiens

RGD ID: 10403618
RS ID: rs376775933
ClinVar ID: CV208506
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCA4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 11,095,944
GRCh38 19 10,985,268
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_878t1:c.223-5C>T
NM_001128845.2:c.223-5C>T
NM_001128846.2:c.223-5C>T
NM_001128847.4:c.223-5C>T
More... 		02/01/2021 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance <1 / 1 000 000 AllHighlyPenetrant; Cancer predisposition; COFFIN-SIRIS SYNDROME 4; Fifth digit syndrome; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES; Mental retardation with absent fifth fingernail and terminal phalanx; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMARCA4
Accession:XM_047439251
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451661
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_003072
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001387283
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439243
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439250
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128848
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128847
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439249
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128844
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451658
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001374457
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439248
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451663
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_024451667
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128849
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_006722846
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_011528198
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439247
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128845
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001411150
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439246
Location:INTRON

Gene Symbol:SMARCA4
Accession:NM_001128846
Location:INTRON

Gene Symbol:SMARCA4
Accession:XM_047439244
Location:INTRON

Gene Symbol:SMARCA4
Accession:NR_164683
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000192965 CLINVAR
  RCV000231479 CLINVAR
  RCV000264082 CLINVAR
  RCV000565130 CLINVAR
  RCV001084416 CLINVAR
  RCV001808537 CLINVAR
dbSNP (RS) rs376775933 CLINVAR
MedGen C0027672 CLINVAR
  C0265338 CLINVAR
  C2750074 CLINVAR
  C3553249 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SMARCA4 CLINVAR
OMIM 135900 CLINVAR
  603254 CLINVAR
  613325 CLINVAR
  614609 CLINVAR
SNOMED CT 10007009 CLINVAR
  699346009 CLINVAR