Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV176305 (NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter)) Homo sapiens

Symbol: CV176305
Name: NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter)
Condition: Nonsyndromic hearing loss and deafness [RCV000152152]
Clinical Significance: pathogenic
Last Evaluated: 11/05/2013
Review Status: classified by single submitter|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): NM_007032.5:c.1459C>T
NM_001039141.3:c.6598C>T
NM_001039141.2:c.6598C>T
NP_008963.3:p.Arg487Ter
NG_012857.1:g.77063C>T
NC_000022.11:g.37769050C>T
NC_000022.10:g.38165057C>T
p.Arg2200X
NP_001034230.1:p.Arg2200Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh382237,769,050 - 37,769,050CLINVAR
GRCh372238,165,057 - 38,165,057CLINVAR
Cytogenetic Map2222q13.1CLINVAR
Trait Synonyms: Non-syndromic genetic deafness; Nonsyndromic genetic deafness
Age Of Onset: neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9692319
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



NHLBI Logo

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