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Variant : CV72399 (GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1) Homo sapiens

Symbol: CV72399
Name: GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1
Condition: Macrocephaly [RCV000051544]|See cases [RCV000051544]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD10   ATG3   ATP6V1A   BOC   BTLA   C3orf52   C3orf85   CCDC191   CCDC80   CD200   CD200R1   CD200R1L   CD200R1L-AS1   CD96   CFAP44   CFAP44-AS1   CIP2A   DPPA2   DPPA4   DRD3   DZIP3   GAP43   GCSAM   GRAMD1C   GTPBP8   GUCA1C   HHLA2   LINC00488   LINC01205   LINC02042   LINC02044   LSAMP   MIR4445   MIR4446   MIR4796   MIR567   MIR568   MIR8076   MIR9900   MORC1   MORC1-AS1   MYH15   NAA50   NECTIN3   NECTIN3-AS1   NEPRO   PHLDB2   PLCXD2   PLCXD2-AS1   QTRT2   RETNLB   SIDT1   SLC35A5   SLC9C1   SNORD155   SPICE1   TAGLN3   TBILA   TIGIT   TMPRSS7   TRAT1   USF3   ZBED2   ZBTB20   ZBTB20-AS1   ZBTB20-AS3   ZBTB20-AS4   ZBTB20-AS5   ZDHHC23   ZNF80  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_108242572)_(116169331_?)del
NC_000003.11:g.(?_107961419)_(115888178_?)del
NC_000003.10:g.(?_109444109)_(117370868_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383108,242,572 - 116,169,331CLINVAR
GRCh373107,961,419 - 115,888,178CLINVAR
Build 363109,444,109 - 117,370,868CLINVAR
Cytogenetic Map33q13.13-13.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618559
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.