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Variant : CV74133 (GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1) Homo sapiens

Symbol: CV74133
Name: GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1
Condition: Sensorineural hearing loss [RCV000053380]|See cases [RCV000053380]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACSF3   ANKRD11   APRT   CBFA2T3   CDH15   CDT1   CTU2   CYBA   GALNS   IL17C   LINC00304   LINC02138   LOC100289580   LOC339059   MIR4722   MVD   PABPN1L   PIEZO1   RNF166   SLC22A31   SNAI3   SNAI3-AS1   SPG7   TRAPPC2L   ZNF778  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_88640116)_(89530475_?)del
NC_000016.9:g.(?_88706524)_(89596883_?)del
NC_000016.8:g.(?_87234025)_(88124384_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381688,640,116 - 89,530,475CLINVAR
GRCh371688,706,524 - 89,596,883CLINVAR
Build 361687,234,025 - 88,124,384CLINVAR
Cytogenetic Map1616q24.2-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620317
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
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.