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Variant : CV919952 (NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)) Homo sapiens

Symbol: CV919952
Name: NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)
Condition: Anisocoria [RCV001196643]
Clinical Significance: likely pathogenic
Last Evaluated: 08/14/2019
Review Status: criteria provided, single submitter
Related Genes: TRIOBP  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NG_012857.1:g.33642C>T
NC_000022.11:g.37725629C>T
NC_000022.10:g.38121636C>T
NM_001039141.2:c.3073C>T
NP_001034230.1:p.Arg1025Ter
NM_001039141.3:c.3073C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382237,725,629 - 37,725,629CLINVAR
GRCh372238,121,636 - 38,121,636CLINVAR
Cytogenetic Map2222q13.1CLINVAR
Trait Synonyms: Asymmetric pupil sizes; Asymmetry in the pigmentation of the irides; Asymmetry of the pupils; Corners of eye widely separated; Different colored eyes; Dystopia canthorum; Heterochromia irides; Heterochromia iridis; Heterochromic iris; Increased distance between medial canthi; Increased intercanthal distance; Pigmentary abnormality of the anterior segment of the eye; Sensorineural deafness; Sensorineural hearing impairment; Sensorineural hearing loss; sensorineural hearing loss disorder; Telecanthus; Unequal pupil dilatation; Unequal pupil size



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 38462746
Created: 2020-08-11
Species: Homo sapiens
Last Modified: 2020-10-15
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.