RGD:11618065 Rat Genome Database

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Variant: RGD:11618065 -  Homo sapiens

RGD ID: 11618065
RS ID: rs2288495
ClinVar ID: CV330908
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC101928462  TSHR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 81,611,919
GRCh38 14 81,145,575
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.*1222G>C
LRG_523:g.195051G>C
NG_009206.1:g.195051G>C
NC_000014.9:g.81145575G>C
More... 		01/13/2018 3 prime utr variant benign|likely benign all ages 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:XM_011537119
Location:3UTRS;EXON

Gene Symbol:TSHR
Accession:NM_000369
Location:3UTRS;EXON

Gene Symbol:TSHR
Accession:NM_001142626
Location:INTRON

Gene Symbol:TSHR
Accession:NM_001018036
Location:INTRON

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

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

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

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

Gene Symbol:LOC101928462
Accession:XR_007064291
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_007064289
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000310384 CLINVAR
  RCV000349021 CLINVAR
dbSNP (RS) rs2288495 CLINVAR
MedGen C1836706 CLINVAR
  C3493776 CLINVAR
NCBI Gene TSHR CLINVAR
OMIM 275200 CLINVAR
  603372 CLINVAR
  609152 CLINVAR