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Variant : CV71729 (GRCh38/hg38 Xq21.1-21.31(chrX:79372269-91308122)x1) Homo sapiens

Symbol: CV71729
Name: GRCh38/hg38 Xq21.1-21.31(chrX:79372269-91308122)x1
Condition: Sensorineural hearing loss [RCV000050772]|See cases [RCV000050772]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: APOOL   BRWD3   CHM   CPXCR1   CYLC1   DACH2   HDX   HMGN5   KLHL4   MIR1321   MIR361   MIR548I4   POF1B   POU3F4   RPS6KA6   SATL1   SH3BGRL   TBX22   TENT5D   TGIF2LX   ZNF711  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_79372269)_(91308122_?)del
NC_000023.10:g.(?_78627766)_(90563121_?)del
NC_000023.9:g.(?_78514422)_(90449777_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X79,372,269 - 91,308,122CLINVAR
GRCh37X78,627,766 - 90,563,121CLINVAR
Build 36X78,514,422 - 90,449,777CLINVAR
Cytogenetic MapXXq21.1-21.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617850
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
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.