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Variant : CV74664 (GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1) Homo sapiens

Symbol: CV74664
Name: GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1
Condition: Abnormality of the ear [RCV000053941]|See cases [RCV000053941]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD17A   ADAT3   AMH   AP3D1   ATP8B3   BTBD2   CSNK1G2   CSNK1G2-AS1   DOT1L   IZUMO4   JSRP1   KLF16   LINGO3   MIR1227   MIR1909   MIR4321   MIR6789   MKNK2   MOB3A   OAZ1   ONECUT3   PEAK3   PLEKHJ1   REXO1   SCAMP4   SF3A2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_1727562)_(2306496_?)del
NC_000019.9:g.(?_1727561)_(2306495_?)del
NC_000019.8:g.(?_1678561)_(2257495_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38191,727,562 - 2,306,496CLINVAR
GRCh37191,727,561 - 2,306,495CLINVAR
Build 36191,678,561 - 2,257,495CLINVAR
Cytogenetic Map1919p13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620856
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.