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Variant : CV590048 (NM_007117.5(TRH):c.25G>A (p.Ala9Thr)) Homo sapiens

Symbol: CV590048
Name: NM_007117.5(TRH):c.25G>A (p.Ala9Thr)
Condition: Global developmental delay [RCV000735385]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: 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): NG_027816.1:g.6571G>A
NC_000003.12:g.129975841G>A
NM_007117.4:c.25G>A
NP_009048.1:p.Ala9Thr
NM_007117.5:c.25G>A
NC_000003.11:g.129694684G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh383129,975,841 - 129,975,841CLINVAR
GRCh373129,694,684 - 129,694,684CLINVAR
Cytogenetic Map33q22.1CLINVAR
Trait Synonyms: Brachycephaly; Broad cranium shape; Broad head shape; Broad skull shape; Chorea; Choreatic disease; Choreic movements; Choreiform movements; Cognitive delay; Decreased muscle tone; Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay in early childhood; Developmental retardation; Generalized hypotonia; Generalized muscular hypotonia; Lack of psychomotor development; Low muscle tone; Mental and motor retardation; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development; Seizures; Wide cranium shape; Wide head shape; Wide skull shape



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13832658
Created: 2019-01-08
Species: Homo sapiens
Last Modified: 2020-05-26
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.