RGD:8597143 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:8597143 -  Homo sapiens

RGD ID: 8597143
RS ID: rs121908884
ClinVar ID: CV21497
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC101928462  TSHR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 81,610,200
GRCh38 14 81,143,856
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_523:g.193332T>C
NG_009206.1:g.193332T>C
NC_000014.9:g.81143856T>C
NC_000014.8:g.81610200T>C
More... 		04/29/2015 missense|missense variant pathogenic neonatal/infancy HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN; HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE; Hypothyroidism, congenital, nongoitrous, 1; HYPOTHYROIDISM, NONAUTOIMMUNE; THYROID-STIMULATING HORMONE, RESISTANCE TO; TSH RESISTANCE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSHR
Accession:NM_000369
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 600
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPPSTQTLKLIETHLRTIPSHAFSNLPNISR
IYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITD
NPYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTA
LPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNS
PLHQEYEENLGDSIVGYKEKSKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTP
KSDEFNPCEDIMGYKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSE
YYNHAIDWQTGPGCNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLALLPLVGI
SSYAKVSICLPMDTETPLALAYIVFVLTLNIVAFVIVCCRYVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPI
SFYALSAILNKPLITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQ
VQKVTHEMRQGLHNMEDVYELIENSHLTPKKQGQISEEYMQTVL*

Gene Symbol:TSHR
Accession:XM_011537119
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 507
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHYSDCVPCNLYREIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITDNPYMTSIPVNAFQ
GLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTALPSKGLEHLKELI
ARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNSPLHQEYEENLGDS
IVGYKEKSKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTPKSDEFNPCEDIMG
YKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSEYYNHAIDWQTGPG
CNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLALLPLVGISSYAKVSICLPMD
TETPLALAYIVFVLTLNIVAFVIVCCRYVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPISFYALSAILNKPL
ITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQVQKVTHEMRQGLH
NMEDVYELIENSHLTPKKQGQISEEYMQTVL*

Gene Symbol:TSHR
Accession:NM_001018036
Location:INTRON

Gene Symbol:TSHR
Accession:NM_001142626
Location:INTRON

Gene Symbol:LOC101928462
Accession:XR_001751022
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_007064291
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_001751018
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_007064290
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_007064287
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_007064286
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_007064289
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_007064288
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:12050212  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000006829 CLINVAR
dbSNP (RS) rs121908884 CLINVAR
MedGen C3493776 CLINVAR
NCBI Gene TSHR CLINVAR
OMIM 275200 CLINVAR
  603372 CLINVAR
OMIM Allele 603372.0029 CLINVAR