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Variant : CV439244 (NM_007117.5(TRH):c.248G>A (p.Arg83His)) Homo sapiens

Symbol: CV439244
Name: NM_007117.5(TRH):c.248G>A (p.Arg83His)
Condition: not provided [RCV000514843]
Clinical Significance: benign|likely benign
Last Evaluated: 08/20/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: TRH  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000003.11:g.129695578G>A
NP_009048.1:p.Arg83His
NC_000003.12:g.129976735G>A
NG_027816.1:g.7465G>A
NM_007117.5:c.248G>A
NM_007117.4:c.248G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh383129,976,735 - 129,976,735CLINVAR
GRCh373129,695,578 - 129,695,578 (+)CLINVAR
Cytogenetic Map33q22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13462800
Created: 2017-12-12
Species: Homo sapiens
Last Modified: 2020-05-19
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.