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Variant : CV74560 (GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1) Homo sapiens

Symbol: CV74560
Name: GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053836]|See cases [RCV000053836]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALPK2   ATP8B1   BCL2   BOD1L2   C18orf54   CCBE1   CCDC68   CDH20   CPLX4   DCC   DYNAP   FECH   GRP   HMSD   KDSR   LINC-ROR   LINC00305   LINC01415   LINC01416   LINC01538   LINC01539   LINC01544   LINC01905   LINC01917   LINC01919   LINC01924   LINC01926   LINC01929   LINC02565   LMAN1   MALT1   MBD2   MC4R   MIR122   MIR3591   MIR4528   MIR4529   NARS1   NEDD4L   ONECUT2   PHLPP1   PIGN   PMAIP1   POLI   RAB27B   RAX   RELCH   RNF152   SEC11C   SERPINB10   SERPINB11   SERPINB12   SERPINB13   SERPINB2   SERPINB3   SERPINB4   SERPINB5   SERPINB7   SERPINB8   SNORA108   SNORA37   ST8SIA3   STARD6   TCF4   TCF4-AS1   TNFRSF11A   TXNL1   VPS4B   WDR7   WDR7-OT1   ZCCHC2   ZNF532  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.(?_52156899)_(65408762_?)del
NC_000018.8:g.(?_47937267)_(61226978_?)del
NC_000018.9:g.(?_49683269)_(63075998_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381852,156,899 - 65,408,762CLINVAR
GRCh371849,683,269 - 63,075,998CLINVAR
Build 361847,937,267 - 61,226,978CLINVAR
Cytogenetic Map1818q21.2-22.1CLINVAR


Annotation    (Toggle Annotation Detail/Summary View)

References - uncurated

Additional Information

External Database Links
  
CRRD Object Information
CRRD ID: 8620751
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.