rs2234919 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: rs2234919 -  Homo sapiens

RGD ID: 8688587
RS ID: rs2234919
ClinVar ID: CV139131
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP128  TSHR  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 81,422,178
GRCh38 14 80,955,834
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_523t1:c.154C>A
LRG_523:g.5310C>A
NG_009206.1:g.5310C>A
NC_000014.9:g.80955834C>A
More... 		02/01/2021 missense variant benign|likely benign|not provided AllHighlyPenetrant; HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE; Hyperthyroidism, nonautoimmune; HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOSOMAL DOMINANT; HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN; HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE; Hypothyroidism, congenital, nongoitrous, 1; HYPOTHYROIDISM, NONAUTOIMMUNE; none provided; THYROID-STIMULATING HORMONE, RESISTANCE TO; TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT; TSH RESISTANCE

Variant Details
Variant Transcripts
Gene Symbol:CEP128
Accession:XM_011536492
Location:5UTRS;INTRON

Gene Symbol:CEP128
Accession:XM_047431021
Location:5UTRS;INTRON

Gene Symbol:CEP128
Accession:XM_047431022
Location:5UTRS;INTRON

Gene Symbol:CEP128
Accession:XM_047431019
Location:5UTRS;INTRON

Gene Symbol:CEP128
Accession:XM_047431018
Location:5UTRS;INTRON

Gene Symbol:TSHR
Accession:NM_000369
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPTSTQTLKLIETHLRTIPSHAFSNLPNISR
IYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITD
NPYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTA
LPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNS
PLHQEYEENLGDSIVGYKEKSKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTP
KSDEFNPCEDIMGYKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSE
YYNHAIDWQTGPGCNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLALLPLVGI
SSYAKVSICLPMDTETPLALAYIVFVLTLNIVAFVIVCCCYVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPI
SFYALSAILNKPLITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQ
VQKVTHEMRQGLHNMEDVYELIENSHLTPKKQGQISEEYMQTVL*

Gene Symbol:TSHR
Accession:NM_001142626
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPTSTQTLKLIETHLRTIPSHAFSNLPNISR
IYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITD
NPYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLVENVAVSGK
GFCKSLFSWLYRLPLGRKSLSFETQKAPRSSMPS*

Gene Symbol:TSHR
Accession:NM_001018036
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPTSTQTLKLIETHLRTIPSHAFSNLPNISR
IYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITD
NPYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLLPLGRKSLS
FETQKAPRSSMPS*

Gene Symbol:CEP128
Accession:NM_152446
Location:INTRON

Gene Symbol:CEP128
Accession:XM_011536493
Location:INTRON

Gene Symbol:CEP128
Accession:XM_011536491
Location:INTRON

Gene Symbol:CEP128
Accession:XM_011536495
Location:INTRON

Gene Symbol:TSHR
Accession:XM_011537119
Location:INTRON

Gene Symbol:CEP128
Accession:XM_017021043
Location:INTRON

Gene Symbol:CEP128
Accession:XM_047431023
Location:INTRON

Gene Symbol:CEP128
Accession:XM_047431020
Location:INTRON

Gene Symbol:CEP128
Accession:XM_047431027
Location:INTRON

Gene Symbol:CEP128
Accession:XM_047431026
Location:INTRON

Gene Symbol:CEP128
Accession:XM_047431025
Location:INTRON

Gene Symbol:CEP128
Accession:NR_157142
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24728327   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000122244 CLINVAR
  RCV000319857 CLINVAR
  RCV001118138 CLINVAR
  RCV001657769 CLINVAR
  RCV001839916 CLINVAR
dbSNP (RS) rs2234919 CLINVAR
MedGen C1836706 CLINVAR
  C1863959 CLINVAR
  C3493776 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CEP128 CLINVAR
  TSHR CLINVAR
OMIM 275200 CLINVAR
  603372 CLINVAR
  603373 CLINVAR
  609152 CLINVAR
  620667 CLINVAR