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Variant : CV174581 (NM_033056.3(PCDH15):c.(?_-15)_(876_?)del) Homo sapiens

Symbol: CV174581
Name: NM_033056.3(PCDH15):c.(?_-15)_(876_?)del
Condition: Rare genetic deafness [RCV000151618]
Clinical Significance: pathogenic
Last Evaluated: 05/16/2014
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: AL353784.1   MIR548F1   PCDH15  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.10:g.(?_56077031)_(56424037_?)del
p.?
NC_000010.11:g.(?_54317271)_(54664277_?)del
NM_033056.3:c.(?_-15)_(876_?)del
NM_033056.3:c.(?_-15)_(876_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381054,317,271 - 54,664,277CLINVAR
GRCh371056,077,031 - 56,424,037CLINVAR
Cytogenetic Map1010q21.1CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 100 000



References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9688041
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2020-06-30
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.