RGD:243064149 Rat Genome Database

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Variant: RGD:243064149 -  Homo sapiens

RGD ID: 243064149
ClinVar ID: CV2411195
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124906284  TRH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 129,696,006
GRCh38 3 129,977,163
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007117.5:c.676C>T
NG_027816.1:g.7893C>T
NC_000003.12:g.129977163C>T
NC_000003.11:g.129696006C>T
More... 		02/28/2022 missense variant uncertain significance Isolated thyrotropin-releasing hormone deficiency; Thyrotropin-releasing hormone deficiency; TRH DEFICIENCY
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TRH
Accession:NM_007117
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGPWLLLALALTLNLTGVPGGRAQPEAAQQEAVTAAEHPGLDDFLRQVERLLFLRENIQRLQGDQGEHSASQIFQSDWL
SKRQHPGKREEEEEEGVEEEEEEEGGAVGPHKRQHPGRREDEASWSVDVTQHKRQHPGRRSPWLAYAVPKRQHPGRRLAD
PKAQRSWEEEEEEEEREEDLMPEKRQHPGKRALGGPCGPQGAYGQAGLLLGLLDDLSRSQGAEEKWQHPGRRAAWVREPL
EE*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003142767 CLINVAR
MedGen C0220998 CLINVAR
NCBI Gene TRH CLINVAR
OMIM 275120 CLINVAR
  613879 CLINVAR
SNOMED CT 37429009 CLINVAR