RGD:11550304 Rat Genome Database

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Variant: RGD:11550304 -  Homo sapiens

RGD ID: 11550304
RS ID: rs5660
ClinVar ID: CV250925
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124906284  TRH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 129,695,714
GRCh38 3 129,976,871
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027816.1:g.7601T>C
NC_000003.12:g.129976871T>C
NC_000003.11:g.129695714T>C
NP_009048.1:p.Asp128=
More... 		synonymous variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TRH
Accession:NM_007117
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGPWLLLALALTLNLTGVPGGRAQPEAAQQEAVTAAEHPGLDDFLRQVERLLFLRENIQRLQGDQGEHSASQIFQSDWL
SKRQHPGKREEEEEEGVEEEEEEEGGAVGPHKRQHPGRREDEASWSVDVTQHKRQHPGRRSPWLAYAVPKRQHPGRRLAD
PKAQRSWEEEEEEEEREEDLMPEKRQHPGKRALGGPCGPQGAYGQAGLLLGLLDDLSRSQGAEEKRQHPGRRAAWVREPL
EE*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251576 CLINVAR
dbSNP (RS) rs5660 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TRH CLINVAR
OMIM 613879 CLINVAR