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Variant : CV73192 (GRCh38/hg38 16p13.3(chr16:46766-3214623)x3) Homo sapiens

Symbol: CV73192
Name: GRCh38/hg38 16p13.3(chr16:46766-3214623)x3
Condition: Nonsyndromic microcephaly [RCV000052370]|See cases [RCV000052370]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCA3   AMDHD2   ANTKMT   ARHGDIG   ATP6V0C   AXIN1   BAIAP3   BICDL2   BRICD5   C16orf91   C1QTNF8   CACNA1H   CAPN15   CASKIN1   CCDC154   CCDC78   CCNF   CEMP1   CEROX1   CHTF18   CIAO3   CLCN7   CLDN6   CLDN9   CRAMP1   DECR2   DNASE1L2   E4F1   ECI1   ELOB   EME2   ERVK13-1   FAHD1   FAM234A   FBXL16   FLYWCH1   FLYWCH2   GFER   GNG13   GNPTG   HAGH   HAGHL   HBA1   HBA2   HBM   HBQ1   HBZ   HCFC1R1   HS3ST6   IFT140   IGFALS   IL32   JMJD8   JPT2   KCTD5   KREMEN2   LINC00235   LINC00254   LINC00514   LINC02124   LMF1   LMF1-AS1   LUC7L   MAPK8IP3   MCRIP2   MEIOB   METRN   METTL26   MIR1225   MIR3176   MIR3177   MIR3178   MIR3180-5   MIR3677   MIR4516   MIR4717   MIR5587   MIR6511B1   MIR662   MIR6767   MIR6768   MIR940   MLST8   MMP25   MMP25-AS1   MPG   MRPL28   MRPS34   MSLN   MSRB1   NDUFB10   NHLRC4   NME3   NME4   NOXO1   NPRL3   NPW   NTHL1   NTN3   NUBP2   OR1F1   PAQR4   PDIA2   PDPK1   PERCC1   PGAP6   PGP   PIGQ   PKD1   PKMYT1   POLR3K   PRR25   PRR35   PRSS21   PRSS22   PRSS27   PRSS33   PRSS41   PTX4   RAB11FIP3   RAB26   RAB40C   RGS11   RHBDF1   RHBDL1   RHOT2   RNF151   RNPS1   RPL3L   RPS2   RPUSD1   SLC9A3R2   SNHG19   SNHG9   SNORA10   SNORA3C   SNORA64   SNORA78   SNORD60   SNRNP25   SOX8   SPSB3   SRRM2   SRRM2-AS1   SSTR5   SSTR5-AS1   STUB1   SYNGR3   TBC1D24   TBL3   TEDC2   TELO2   THOC6   TMEM204   TNFRSF12A   TPSAB1   TPSB2   TPSD1   TPSG1   TRAF7   TRG-CCC2-2   TRK-CTT2-5   TRK-CTT3-1   TRK-CTT4-1   TRK-CTT5-1   TRP-AGG1-1   TRP-AGG2-7   TRP-AGG2-8   TRP-CGG1-2   TRP-TGG3-3   TRP-TGG3-4   TRP-TGG3-5   TRR-CCG1-3   TRR-CCT3-1   TRR-CCT5-1   TSC2   TSR3   UBE2I   UNKL   WDR24   WDR90   WFIKKN1   ZG16B   ZNF205   ZNF205-AS1   ZNF213   ZNF213-AS1   ZNF598   ZSCAN10  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_46766)_(3214623_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381646,766 - 3,214,623CLINVAR
GRCh371696,766 - 3,264,623CLINVAR
Build 361636,766 - 3,204,624CLINVAR
Cytogenetic Map1616p13.3CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8619360
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.