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Variant : CV74440 (GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1) Homo sapiens

Symbol: CV74440
Name: GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AADACL4   ACOT7   ACTRT2   AGTRAP   AJAP1   ANGPTL7   ARHGEF16   C1orf127   C1orf167   C1orf174   CA6   CAMTA1   CAMTA1-IT1   CASZ1   CCDC27   CENPS   CENPS-CORT   CEP104   CHD5   CLCN6   CLSTN1   CORT   CTNNBIP1   DFFA   DFFB   DHRS3   DISP3   DNAJC11   DRAXIN   ENO1   ENO1-AS1   ERRFI1   ESPN   EXOSC10   FBXO2   FBXO44   FBXO6   GPR153   GPR157   H6PD   HES2   HES3   ICMT   KCNAB2   KIAA2013   KIF1B   KLHL21   LINC00337   LINC01134   LINC01345   LINC01346   LINC01646   LINC01647   LINC01672   LINC01714   LINC01777   LNCTAM34A   LRRC47   LZIC   MAD2L2   MASP2   MEGF6   MFN2   MIIP   MIR34A   MIR34AHG   MIR4251   MIR4252   MIR4632   MIR4689   MIR551A   MIR5697   MIR6728   MIR6729   MIR6730   MIR7846   MTHFR   MTOR   MTOR-AS1   NMNAT1   NOL9   NPHP4   NPPA   NPPA-AS1   NPPB   PARK7   PER3   PEX14   PGD   PHF13   PIK3CD   PIK3CD-AS1   PIK3CD-AS2   PLEKHG5   PLOD1   PRDM16   PRDM16-DT   RBP7   RERE   RNF207   RNU5E-1   RPL22   SLC25A33   SLC2A5   SLC2A7   SLC45A1   SMIM1   SNORA59A   SNORD128   SPSB1   SRM   TARDBP   TAS1R1   THAP3   TMEM201   TNFRSF1B   TNFRSF25   TNFRSF8   TNFRSF9   TP73   TP73-AS1   TPRG1L   UBE4B   UBIAD1   UTS2   VAMP3   VPS13D   WRAP73   ZBTB48  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_2963330)_(12666744_?)del
NC_000001.10:g.(?_2879895)_(12726755_?)del
NC_000001.9:g.(?_2869755)_(12649342_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3812,963,330 - 12,666,744CLINVAR
GRCh3712,879,895 - 12,726,755CLINVAR
Build 3612,869,755 - 12,649,342CLINVAR
Cytogenetic Map11p36.32-36.21CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620631
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.