RGD:156045898 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 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
Advanced Search (OLGA)

Variant: RGD:156045898 -  Homo sapiens

RGD ID: 156045898
ClinVar ID: CV2315562
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZBTB32  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 36,205,866
GRCh38 19 35,714,964
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001316903.2:c.-86-499G>A
NM_014383.3:c.338G>A
NM_001316902.2:c.6-499G>A
NG_052906.1:g.1946G>A
More... 		11/17/2022 intron variant uncertain significance AllHighlyPenetrant

Gene Symbol:ZBTB32
Accession:NM_001316903
Location:5UTRS;INTRON

Gene Symbol:ZBTB32
Accession:NM_014383
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLPPIRLPSPYGSDRLVQLAARLRPALCDTLITVGSQEFPAHSLVLAGVSQQLGRRGQWALGEGISPSTFAQLLNFVYG
ESVELQPGELRPLQEAARALGVQSLEEACWRAQGDRAKKPDPGLKKHQEEPEKPSRNPERELGDPGEKQKPEQVSRTGGR
EQEMLHKHSPPRGRPEMAGATQEAQQEQTRSKEKRLQAPVGQRGADGKHGVLTWLRENPGGSEESLRKLPGPLPPAGSLQ
TSVTPRPSWAEAPWLVGGQPALWSILLMPPRYGIPFYHSTPTTGAWQEVWREQRIPLSLNAPKGLWSQNQLASSSPTPGS
LPQGPAQLSPGEMEESDQGHTGALATCAGHEDKAGCPPRPHPPPAPPARSRPYACSVCGKRFSLKHQMETHYRVHTGEKP
FSCSLCPQRSRDFSAMTKHLRTHGAAPYRCSLCGAGCPSLASMQAHMRGHSPSQLPPGWTIRSTFLYSSSRPSRPSTSPC
CPSSSTT*

Gene Symbol:ZBTB32
Accession:XM_017026591
Location:INTRON

Gene Symbol:ZBTB32
Accession:NM_001316902
Location:INTRON

.


Database
Acc Id
Source(s)
ClinVar RCV004169604 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZBTB32 CLINVAR
OMIM 605859 CLINVAR