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Variant : CV72711 (GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3) Homo sapiens

Symbol: CV72711
Name: GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3
Condition: Macrocephaly [RCV000051861]|See cases [RCV000051861]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCB10   ACBD3   ACBD3-AS1   ACTA1   ACTN2   ADSS2   AGT   AHCTF1   AIDA   AKT3   ANGEL2   ARF1   ARID4B   ARV1   ATF3   B3GALNT2   BATF3   BECN2   BPNT1   BROX   BTNL10   C1orf100   C1orf115   C1orf131   C1orf198   C1orf229   C1orf35   C1orf74   CAPN2   CAPN8   CAPN9   CATSPERE   CCDC185   CCSAP   CDC42BPA   CENPF   CEP170   CHML   CHRM3   CHRM3-AS1   CHRM3-AS2   CNIH3   CNIH3-AS1   CNIH3-AS2   CNIH4   CNST   COA6   COA6-AS1   COG2   COQ8A   COX20   DEGS1   DESI2   DISC1   DISC1-IT1   DISC2   DISP1   DNAH14   DTL   DUSP10   EDARADD   EFCAB2   EGLN1   ENAH   EPHX1   EPRS1   ERO1B   ESRRG   EXO1   EXOC8   FAM177B   FAM71A   FAM89A   FBXO28   FH   FLVCR1   FLVCR1-DT   FMN2   G0S2   GALNT2   GCSAML   GCSAML-AS1   GGPS1   GJC2   GNG4   GNPAT   GPATCH2   GPR137B   GREM2   GUK1   H2AW   H2BU1   H3-3A   H3-4   HEATR1   HHAT   HHIPL2   HLX   HLX-AS1   HNRNPU   HSD11B1   HSD11B1-AS1   IARS2   IBA57   IBA57-DT   INTS7   IRF2BP2   IRF6   ITPKB   ITPKB-IT1   JMJD4   KCNH1   KCNH1-IT1   KCNK1   KCNK2   KCTD3   KIF26B   KIF26B-AS1   KMO   LAMB3   LBR   LEFTY1   LEFTY2   LGALS8   LGALS8-AS1   LIN9   LINC00184   LINC00210   LINC00467   LINC00538   LINC00582   LINC01132   LINC01139   LINC01341   LINC01347   LINC01348   LINC01352   LINC01354   LINC01641   LINC01653   LINC01655   LINC01682   LINC01693   LINC01703   LINC01710   LINC01736   LINC01737   LINC01740   LINC01743   LINC01744   LINC01745   LINC02257   LINC02474   LINC02608   LINC02765   LINC02768   LINC02771   LINC02773   LINC02774   LINC02779   LINC02809   LINC02815   LINC02817   LINC02869   LPGAT1   LPGAT1-AS1   LYPD8   LYPLAL1   LYPLAL1-AS1   LYPLAL1-DT   LYST   MAP10   MAP1LC3C   MAP3K21   MARK1   MIA3   MIR1182   MIR1537   MIR194-1   MIR215   MIR3122   MIR3123   MIR3124   MIR320B2   MIR3620   MIR3916   MIR4427   MIR4428   MIR4666A   MIR4671   MIR4677   MIR4742   MIR4753   MIR5008   MIR664A   MIR6741   MIR6742   MIXL1   MRPL55   MT1HL1   MTARC1   MTARC2   MTR   NEK2   NENF   NID1   NLRP3   NSL1   NTPCR   NUP133   NVL   OBSCN   OBSCN-AS1   OPN3   OR11L1   OR13G1   OR14A16   OR14A2   OR14C36   OR14I1   OR14K1   OR1C1   OR2AJ1   OR2AK2   OR2B11   OR2C3   OR2G2   OR2G3   OR2G6   OR2L13   OR2L2   OR2L3   OR2L5   OR2L8   OR2M2   OR2M3   OR2M4   OR2M5   OR2M7   OR2T1   OR2T10   OR2T11   OR2T12   OR2T2   OR2T27   OR2T29   OR2T3   OR2T33   OR2T34   OR2T35   OR2T4   OR2T5   OR2T6   OR2T7   OR2T8   OR2W3   OR2W5   OR6F1   PACC1   PARP1   PCNX2   PGBD2   PGBD5   PLD5   PPP2R5A   PROX1   PROX1-AS1   PRSS38   PSEN2   PTPN14   PYCR2   RAB3GAP2   RAB4A   RBM34   RCOR3   RD3   RGS7   RHOU   RNA5S1   RNA5S10   RNA5S11   RNA5S12   RNA5S13   RNA5S14   RNA5S15   RNA5S16   RNA5S17   RNA5S2   RNA5S3   RNA5S4   RNA5S5   RNA5S6   RNA5S7   RNA5S8   RNA5S9   RNF187   RPS6KC1   RRP15   RYR2   SCCPDH   SDCCAG8   SDE2   SERTAD4   SERTAD4-AS1   SH3BP5L   SIPA1L2   SLC30A1   SLC30A10   SLC35F3   SMYD2   SMYD3   SNAP47   SNORA100   SNORA14B   SNORA16B   SNORA36B   SPATA17   SPATA17-AS1   SPATA45   SPRTN   SRP9   STUM   SUSD4   SYT14   TAF1A   TAF1A-AS1   TAF5L   TARBP1   TATDN3   TBCE   TFB2M   TGFB2   TGFB2-AS1   TGFB2-OT1   TLR5   TMEM63A   TOMM20   TP53BP2   TRAF3IP3   TRAF5   TRE-CTC2-1   TRIM11   TRIM17   TRIM58   TRIM67   TRL-CAA4-1   TRT-TGT2-1   TSNAX   TSNAX-DISC1   TTC13   URB2   USH2A   UTP25   VASH2   VN1R5   WDR26   WDR64   WNT3A   WNT9A   ZBTB18   ZC3H11B   ZNF124   ZNF496   ZNF669   ZNF670   ZNF670-ZNF695   ZNF672   ZNF678   ZNF692   ZNF695   ZP4  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_209646207)_(248931113_?)dup
NC_000001.10:g.(?_209819552)_(249225312_?)dup
NC_000001.9:g.(?_207886175)_(247191935_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381209,646,207 - 248,931,113CLINVAR
GRCh371209,819,552 - 249,225,312CLINVAR
Build 361207,886,175 - 247,191,935CLINVAR
Cytogenetic Map11q32.2-44CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618872
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-15
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.