RGD:28883493 Rat Genome Database

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Variant: RGD:28883493 -  Homo sapiens

RGD ID: 28883493
RS ID: rs763398101
ClinVar ID: CV872815
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC101928462  TSHR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 81,610,659
GRCh38 14 81,144,315
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009206.1:g.193791G>A
NP_000360.2:p.Gly753Ser
NC_000014.8:g.81610659G>A
NM_000369.2:c.2257G>A
More...
01/13/2018 missense variant uncertain significance 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; THYROID-STIMULATING HORMONE, RESISTANCE TO; TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT; 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: G to S (nonsynonymous)
Amino Acid Position: 753
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPPSTQTLKLIETHLRTIPSHAFSNLPNISR
IYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITD
NPYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTA
LPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNS
PLHQEYEENLGDSIVGYKEKSKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTP
KSDEFNPCEDIMGYKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSE
YYNHAIDWQTGPGCNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLALLPLVGI
SSYAKVSICLPMDTETPLALAYIVFVLTLNIVAFVIVCCCYVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPI
SFYALSAILNKPLITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQ
VQKVTHEMRQGLHNMEDVYELIENSHLTPKKQSQISEEYMQTVL*

Gene Symbol:TSHR
Accession:XM_011537119
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 660
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHYSDCVPCNLYREIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITDNPYMTSIPVNAFQ
GLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTALPSKGLEHLKELI
ARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNSPLHQEYEENLGDS
IVGYKEKSKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTPKSDEFNPCEDIMG
YKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSEYYNHAIDWQTGPG
CNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLALLPLVGISSYAKVSICLPMD
TETPLALAYIVFVLTLNIVAFVIVCCCYVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPISFYALSAILNKPL
ITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQVQKVTHEMRQGLH
NMEDVYELIENSHLTPKKQSQISEEYMQTVL*

Gene Symbol:TSHR
Accession:NM_001142626
Location:INTRON

Gene Symbol:TSHR
Accession:NM_001018036
Location:INTRON

Gene Symbol:LOC101928462
Accession:XR_001751022
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_007064288
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_007064291
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001118460 CLINVAR
  RCV001118461 CLINVAR
dbSNP (RS) rs763398101 CLINVAR
MedGen C1836706 CLINVAR
  C3493776 CLINVAR
NCBI Gene TSHR CLINVAR
OMIM 275200 CLINVAR
  603372 CLINVAR
  609152 CLINVAR