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Variant : CV72232 (GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1) Homo sapiens

Symbol: CV72232
Name: GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1
Condition: Sensorineural hearing loss [RCV000051372]|See cases [RCV000051372]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALOX5AP   B3GLCT   BRCA2   FRY   FRY-AS1   HMGB1   HSPH1   KATNAL1   LINC00297   LINC00365   LINC00384   LINC00385   LINC00398   LINC00423   LINC00426   LINC00544   LINC00545   LINC00572   LINC01058   MEDAG   N4BP2L1   N4BP2L2   N4BP2L2-IT2   PDS5B   RXFP2   TEX26   TEX26-AS1   TRN-GTT2-4   UBE2L5   UBL3   USPL1   ZAR1L  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_29654134)_(32858245_?)del
NC_000013.10:g.(?_30228271)_(33432383_?)del
NC_000013.9:g.(?_29126271)_(32330383_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381329,654,134 - 32,858,245CLINVAR
GRCh371330,228,271 - 33,432,383CLINVAR
Build 361329,126,271 - 32,330,383CLINVAR
Cytogenetic Map1313q12.3-13.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618391
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
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.