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Variant : CV72536 (GRCh38/hg38 22q12.3-13.1(chr22:36068124-38002382)x3) Homo sapiens

Symbol: CV72536
Name: GRCh38/hg38 22q12.3-13.1(chr22:36068124-38002382)x3
Condition: Hearing impairment [RCV000051683]|See cases [RCV000051683]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANKRD54   APOL1   APOL2   APOL3   APOL4   C1QTNF6   C22orf23   CACNG2   CARD10   CDC42EP1   CSF2RB   CYTH4   EIF3D   EIF3L   ELFN2   FOXRED2   GALR3   GCAT   GGA1   H1-0   IFT27   IL2RB   KCTD17   LGALS1   LGALS2   MFNG   MICALL1   MIR4534   MIR658   MIR659   MIR6819   MIR6820   MPST   MYH9   NCF4   NCF4-AS1   NOL12   PDXP   POLR2F   PVALB   RAC2   SH3BP1   SOX10   SSTR3   TEX33   TMPRSS6   TRIOBP   TST   TXN2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.10:g.(?_36464172)_(38398389_?)dup
NC_000022.9:g.(?_34794118)_(36728335_?)dup
NC_000022.11:g.(?_36068124)_(38002382_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382236,068,124 - 38,002,382CLINVAR
GRCh372236,464,172 - 38,398,389CLINVAR
Build 362234,794,118 - 36,728,335CLINVAR
Cytogenetic Map2222q12.3-13.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618696
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.