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Variant : CV74116 (GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1) Homo sapiens

Symbol: CV74116
Name: GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1
Condition: Hemifacial hyperplasia [RCV000053363]|See cases [RCV000053363]
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   LINC02182   LOC100289580   LOC339059   MIR4722   MIR5189   MVD   PABPN1L   PIEZO1   RNF166   SLC22A31   SNAI3   SNAI3-AS1   TRAPPC2L   ZC3H18   ZC3H18-AS1   ZFPM1   ZNF469   ZNF778  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_88159660)_(89506042_?)del
Human AssemblyChrPosition (strand)Source
GRCh381688,159,660 - 89,506,042CLINVAR
GRCh371688,193,266 - 89,572,450CLINVAR
Build 361686,750,767 - 88,099,951CLINVAR
Cytogenetic Map1616q24.2-24.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8620300
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.