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Variant : CV74894 (GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1) Homo sapiens

Symbol: CV74894
Name: GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCB8   ABCF2   ACTR3B   ACTR3C   ADCK2   AGAP3   AGK   AOC1   ARHGEF35   ARHGEF5   ASB10   ASIC3   ATG9B   ATP6V0E2   ATP6V0E2-AS1   BLACE   BRAF   C7orf33   CASP2   CDK5   CHPF2   CLCN1   CLEC2L   CLEC5A   CNPY1   CNTNAP2   CRYGN   CTAGE15   CTAGE4   CTAGE6   CTAGE8   CUL1   DENND11   DENND2A   DNAJB6   DPP6   EN2   EPHA1   EPHA1-AS1   EPHB6   ESYT2   EZH2   FAM131B   FASTK   FMC1-LUC7L2   GALNT11   GALNTL5   GBX1   GHET1   GIMAP1   GIMAP1-GIMAP5   GIMAP2   GIMAP4   GIMAP5   GIMAP6   GIMAP7   GIMAP8   GSTK1   HIPK2   HTR5A   HTR5A-AS1   INSIG1   IQCA1L   KCNH2   KDM7A   KDM7A-DT   KEL   KLRG2   KMT2C   KRBA1   LINC00244   LINC00689   LINC00996   LINC01003   LINC01006   LINC01022   LINC01287   LLCFC1   LMBR1   LRRC61   LUC7L2   MGAM   MGAM2   MIR153-2   MIR3907   MIR548F4   MIR5707   MIR595   MIR671   MIR6892   MKRN1   MNX1   MNX1-AS1   MNX1-AS2   MRPS33   MTRNR2L6   NCAPG2   NDUFB2   NDUFB2-AS1   NOBOX   NOM1   NOS3   NUB1   OR10AC1   OR2A1   OR2A1-AS1   OR2A12   OR2A14   OR2A2   OR2A25   OR2A42   OR2A5   OR2A7   OR2F1   OR2F2   OR6B1   OR6V1   OR9A2   OR9A4   PARP12   PAXIP1   PAXIP1-AS1   PAXIP1-AS2   PDIA4   PIP   PRKAG2   PRKAG2-AS1   PRSS1   PRSS2   PRSS37   PRSS58   PTPRN2   RAB19   RARRES2   RBM33   REPIN1   RHEB   RNF32   RNY1   RNY3   RNY4   RNY5   SHH   SLC37A3   SLC4A2   SMARCD3   SSBP1   SSPOP   TAS2R3   TAS2R38   TAS2R39   TAS2R4   TAS2R40   TAS2R41   TAS2R5   TAS2R60   TBXAS1   TCAF1   TCAF2   TMEM139   TMEM176A   TMEM176B   TMEM178B   TMUB1   TPK1   TRB   TRBC1   TRBC2   TRBD1   TRBD2   TRBJ1-1   TRBJ1-2   TRBJ1-3   TRBJ1-4   TRBJ1-5   TRBJ1-6   TRBJ2-1   TRBJ2-2   TRBJ2-3   TRBJ2-4   TRBJ2-5   TRBJ2-6   TRBJ2-7   TRBV10-1   TRBV10-2   TRBV10-3   TRBV11-1   TRBV11-2   TRBV11-3   TRBV12-3   TRBV12-4   TRBV12-5   TRBV13   TRBV14   TRBV15   TRBV17   TRBV18   TRBV19   TRBV2   TRBV20-1   TRBV24-1   TRBV25-1   TRBV27   TRBV28   TRBV29-1   TRBV3-1   TRBV30   TRBV4-1   TRBV4-2   TRBV5-1   TRBV5-4   TRBV5-5   TRBV5-6   TRBV5-7   TRBV6-1   TRBV6-2   TRBV6-4   TRBV6-5   TRBV6-6   TRBV6-7   TRBV6-8   TRBV7-2   TRBV7-3   TRBV7-4   TRBV7-6   TRBV7-7   TRBV7-9   TRBV9   TRC-GCA1-1   TRC-GCA10-1   TRC-GCA11-1   TRC-GCA12-1   TRC-GCA13-1   TRC-GCA15-1   TRC-GCA16-1   TRC-GCA17-1   TRC-GCA18-1   TRC-GCA19-1   TRC-GCA20-1   TRC-GCA21-1   TRC-GCA22-1   TRC-GCA23-1   TRC-GCA3-1   TRC-GCA9-2   TRC-GCA9-3   TRC-GCA9-4   TRPV5   TRPV6   TRS-AGA5-1   UBE3C   VIPR2   WDR60   WDR86   WDR86-AS1   WEE2   WEE2-AS1   XRCC2   ZBED6CL   ZNF212   ZNF282   ZNF398   ZNF425   ZNF467   ZNF746   ZNF775   ZNF777   ZNF783   ZNF786   ZNF862   ZYX  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_139365967)_(159282531_?)del
NC_000007.13:g.(?_139050713)_(159075220_?)del
NC_000007.12:g.(?_138701253)_(158767981_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh387139,365,967 - 159,282,531CLINVAR
GRCh377139,050,713 - 159,075,220CLINVAR
Build 367138,701,253 - 158,767,981CLINVAR
Cytogenetic Map77q34-36.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8621086
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.