RGD:8597121 Rat Genome Database

Variant: RGD:8597121 - Homo sapiens

RGD ID:

8597121

RS ID:

rs121908863

ClinVar ID:

CV21474

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC101928462 TSHR

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	14	81,558,891
GRCh38	14	81,092,547

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Trait Synonyms
LRG_523:g.142023C>G NG_009206.1:g.142023C>G NC_000014.9:g.81092547C>G NC_000014.8:g.81558891C>G More...	08/26/2022	missense\|missense variant	pathogenic\|likely pathogenic	neonatal/infancy	Familial hyperthyroidism due to mutations in TSH receptor; HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE; Hyperthyroidism, nonautoimmune; HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOSOMAL DOMINANT; Hypothyroidism due to TSH receptor mutations; 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

Disease Annotations Click to see Annotation Detail View

Congenital Nongoitrous Hypothyroidism (IAGP)

congenital nongoitrous hypothyroidism 1 (IAGP)

familial gestational hyperthyroidism (IAGP)

nonautoimmune hyperthyroidism (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TSHR
Accession:	NM_001018036
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPPSTQTLKLIETHLRTIPSHAFSNLPNISR IYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITD NAYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLLPLGRKSLS FETQKAPRSSMPS*

Gene Symbol:	TSHR
Accession:	NM_000369
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPPSTQTLKLIETHLRTIPSHAFSNLPNISR IYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITD NAYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTA LPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNS PLHQEYEENLGDSIVGYKEKSKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTP KSDEFNPCEDIMGYKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSE YYNHAIDWQTGPGCNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLALLPLVGI SSYAKVSICLPMDTETPLALAYIVFVLTLNIVAFVIVCCCYVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPI SFYALSAILNKPLITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQ VQKVTHEMRQGLHNMEDVYELIENSHLTPKKQGQISEEYMQTVL*

Gene Symbol:	TSHR
Accession:	NM_001142626
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPPSTQTLKLIETHLRTIPSHAFSNLPNISR IYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITD NAYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLVENVAVSGK GFCKSLFSWLYRLPLGRKSLSFETQKAPRSSMPS*

Gene Symbol:	TSHR
Accession:	XM_011537119
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	69

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHYSDCVPCNLYREIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITDNAYMTSIPVNAFQ GLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTALPSKGLEHLKELI ARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNSPLHQEYEENLGDS IVGYKEKSKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTPKSDEFNPCEDIMG YKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSEYYNHAIDWQTGPG CNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLALLPLVGISSYAKVSICLPMD TETPLALAYIVFVLTLNIVAFVIVCCCYVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPISFYALSAILNKPL ITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQVQKVTHEMRQGLH NMEDVYELIENSHLTPKKQGQISEEYMQTVL*

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

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

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

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

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

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

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

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:7528344	PMID:8681963	PMID:8954020	PMID:10560953	PMID:12050212	PMID:16060907	PMID:21490078	PMID:23329763	PMID:25557138	PMID:25741868	PMID:28444304	PMID:28492532
PMID:30240412

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000006805	CLINVAR
	RCV001815162	CLINVAR
	RCV002490329	CLINVAR
	RCV003466821	CLINVAR
dbSNP (RS)	rs121908863	CLINVAR
MedGen	C1863959	CLINVAR
	C3493776	CLINVAR
	C3661900	CLINVAR
NCBI Gene	TSHR	CLINVAR
OMIM	275200	CLINVAR
	603372	CLINVAR
	603373	CLINVAR
	609152	CLINVAR
OMIM Allele	603372.0006	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:8597121 - Homo sapiens

Imported Disease Annotations - ClinVar