RGD:405733273 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:405733273 -  Homo sapiens

RGD ID: 405733273
ClinVar ID: CV3244944
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DTWD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 49,935,561
GRCh38 15 49,643,364
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000015.9:g.49935561C>T
NM_020234.5:c.701C>T
NP_001138427.1:p.Thr234Ile
NP_064619.2:p.Thr234Ile
More... 		09/20/2023 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:DTWD1
Accession:NM_020234
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLNPPIFLKRSEENSSKFVETKQSQTTSIASEDPLQNLCLASQEVLQKAQQSGRSKCLKCGGSRMFYCYTCYVPVENVP
IEQIPLVKLPLKIDIIKHPNETDGKSTAIHAKLLAPEFVNIYTYPCIPEYEEKDHEVALIFPGPQSISIKDISFHLQKRI
QNNVRGKNDDPDKPSFKRKRTEEQEFCDLNDSKCKGTTLKKIIFIDSTWNQTNKIFTDERLQGLLQVELKTRKICFWRHQ
KGKPDTFLSTIEAIYYFLVDYHTDILKEKYRGQYDNLLFFYSFMYQLIKNAKCSGDKETGKLTH*

Gene Symbol:DTWD1
Accession:NM_001144955
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLNPPIFLKRSEENSSKFVETKQSQTTSIASEDPLQNLCLASQEVLQKAQQSGRSKCLKCGGSRMFYCYTCYVPVENVP
IEQIPLVKLPLKIDIIKHPNETDGKSTAIHAKLLAPEFVNIYTYPCIPEYEEKDHEVALIFPGPQSISIKDISFHLQKRI
QNNVRGKNDDPDKPSFKRKRTEEQEFCDLNDSKCKGTTLKKIIFIDSTWNQTNKIFTDERLQGLLQVELKTRKICFWRHQ
KGKPDTFLSTIEAIYYFLVDYHTDILKEKYRGQYDNLLFFYSFMYQLIKNAKCSGDKETGKLTH*

Gene Symbol:DTWD1
Accession:XM_017022424
Location:INTRON

Gene Symbol:DTWD1
Accession:XM_017022426
Location:INTRON

Gene Symbol:DTWD1
Accession:XM_047432880
Location:INTRON

Gene Symbol:DTWD1
Accession:XM_017022425
Location:INTRON

Gene Symbol:DTWD1
Accession:XM_011521815
Location:INTRON

Gene Symbol:DTWD1
Accession:XM_047432879
Location:INTRON

Gene Symbol:DTWD1
Accession:XM_017022423
Location:INTRON

Gene Symbol:DTWD1
Accession:XM_047432881
Location:INTRON

.


Database
Acc Id
Source(s)
ClinVar RCV004379487 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DTWD1 CLINVAR