RGD:11349954 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:11349954 -  Homo sapiens

RGD ID: 11349954
RS ID: rs767159855
ClinVar ID: CV240271
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RECQL4  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 145,738,594
GRCh38 8 144,513,211
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000008.11:g.144513211T>G
NC_000008.10:g.145738594T>G
NM_004260.3:c.2463+7A>C
NG_016430.1:g.9616A>C
More... 		07/30/2020 intron variant likely benign neonatal <1 / 1 000 000 Craniosynostosis radial aplasia syndrome; Craniosynostosis with radial defects
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RECQL4
Accession:NM_001413020
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413027
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413031
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413041
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422440
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422443
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413043
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413037
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413035
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413039
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413021
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413022
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422438
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413017
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413024
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422441
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422448
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413029
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413034
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413028
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413030
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413032
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413038
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413040
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413023
Location:INTRON

Gene Symbol:RECQL4
Accession:XM_047422444
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413018
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413033
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413036
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413019
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413042
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_001413025
Location:INTRON

Gene Symbol:RECQL4
Accession:NM_004260
Location:INTRON

Gene Symbol:RECQL4
Accession:NR_182092
Location:INTRON;NON-CODING

Gene Symbol:RECQL4
Accession:NR_182091
Location:INTRON;NON-CODING

Gene Symbol:RECQL4
Accession:NR_182090
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000232671 CLINVAR
dbSNP (RS) rs767159855 CLINVAR
MedGen C0265308 CLINVAR
NCBI Gene RECQL4 CLINVAR
OMIM 218600 CLINVAR
  603780 CLINVAR
SNOMED CT 77608001 CLINVAR