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Variant : CV176412 (NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)) Homo sapiens

Symbol: CV176412
Name: NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)
Condition: Deafness [RCV000509516]|Deafness, autosomal recessive 28 [RCV000664422]|not provided [RCV000442379]|not specified [RCV000152133]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|not provided
Last Evaluated: 01/15/2019
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion provided
Related Genes: TRIOBP  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|phenotyping only
HGVS Name(s): NG_012857.1:g.41394G>A
NC_000022.11:g.37733381G>A
NC_000022.10:g.38129388G>A
NP_001034230.1:p.Arg1344Gln
p.[Arg1344Gln]
NM_001039141.2:c.4031G>A
NM_001039141.3:c.4031G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382237,733,381 - 37,733,381CLINVAR
GRCh372238,129,388 - 38,129,388CLINVAR
Cytogenetic Map2222q13.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9688189
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2020-09-08
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.