RGD:11544331 Rat Genome Database

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Variant: RGD:11544331 -  Homo sapiens

RGD ID: 11544331
RS ID: rs2241119
ClinVar ID: CV255092
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC101928462  TSHR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 81,558,965
GRCh38 14 81,092,621
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_523t1:c.545+13A>G
LRG_523:g.142097A>G
NG_009206.1:g.142097A>G
NC_000014.9:g.81092621A>G
More... 		02/01/2024 intron variant benign|likely benign all ages 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
Disease Annotations     Click to see Annotation Detail View


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

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

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

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

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

Gene Symbol:TSHR
Accession:XM_011537119
Location:INTRON

Gene Symbol:TSHR
Accession:NM_001018036
Location:INTRON

Gene Symbol:TSHR
Accession:NM_000369
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_001751018
Location:INTRON;NON-CODING

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000243644 CLINVAR
  RCV000347168 CLINVAR
  RCV000400761 CLINVAR
  RCV001658165 CLINVAR
dbSNP (RS) rs2241119 CLINVAR
MedGen C1836706 CLINVAR
  C3493776 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TSHR CLINVAR
OMIM 275200 CLINVAR
  603372 CLINVAR
  609152 CLINVAR