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Variant : CV74484 (GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1) Homo sapiens

Symbol: CV74484
Name: GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053760]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053760]|See cases [RCV000053760]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AADACL3   AADACL4   ACTL8   AGMAT   AGTRAP   AKR7A2   AKR7A3   AKR7L   ALDH4A1   ALPL   ANGPTL7   ARHGEF10L   ARHGEF19   ATP13A2   C1orf127   C1orf158   C1orf167   C1orf167-AS1   C1orf195   CAMK2N1   CAPZB   CASP9   CASZ1   CDA   CDC42   CELA2A   CELA2B   CELA3A   CELA3B   CLCN6   CLCNKA   CLCNKB   CPLANE2   CROCC   CTRC   DDI2   DDOST   DHRS3   DISP3   DNAJC16   DRAXIN   ECE1   ECE1-AS1   EFHD2   EIF4G3   EMC1   EMC1-AS1   EPHA2   EXOSC10   EXOSC10-AS1   FAM131C   FAM43B   FBLIM1   FBXO2   FBXO42   FBXO44   FBXO6   FHAD1   FHAD1-AS1   HNRNPCL1   HNRNPCL2   HNRNPCL3   HNRNPCL4   HP1BP3   HSPB7   HSPG2   HTR6   IFFO2   IGSF21   IGSF21-AS1   KAZN   KAZN-AS1   KIAA2013   KIF17   KLHDC7A   LDLRAD2   LINC00339   LINC01141   LINC01635   LINC01647   LINC01654   LINC01757   LINC01772   LINC01783   LINC01784   LINC02596   LINC02766   LINC02783   LRRC38   MAD2L2   MASP2   MFAP2   MFN2   MICOS10   MICOS10-NBL1   MIIP   MIR1256   MIR1290   MIR3675   MIR3972   MIR4418   MIR4632   MIR4695   MIR6084   MIR6729   MIR6730   MIR7846   MRTO4   MST1L   MTHFR   MTOR   MTOR-AS1   MUL1   NBL1   NBPF1   NBPF3   NECAP2   NPPA   NPPA-AS1   NPPB   OTUD3   PADI1   PADI2   PADI3   PADI4   PADI6   PAX7   PDPN   PEX14   PINK1   PINK1-AS   PLA2G2A   PLA2G2C   PLA2G2D   PLA2G2E   PLA2G2F   PLA2G5   PLEKHM2   PLOD1   PRAMEF1   PRAMEF10   PRAMEF11   PRAMEF12   PRAMEF13   PRAMEF14   PRAMEF15   PRAMEF17   PRAMEF18   PRAMEF19   PRAMEF2   PRAMEF20   PRAMEF25   PRAMEF26   PRAMEF27   PRAMEF33   PRAMEF4   PRAMEF5   PRAMEF6   PRAMEF7   PRAMEF8   PRAMEF9   PRDM2   RAP1GAP   RCC2   RNF186   RNU1-1   RNU1-2   RNU1-3   RNU1-4   RNU5E-1   RSC1A1   SCARNA21B   SDHB   SH2D5   SLC25A34   SLC25A34-AS1   SLC66A1   SNORA59A   SPATA21   SPEN   SRARP   SRM   SZRD1   TARDBP   TAS1R2   TMCO4   TMEM51   TMEM51-AS1   TMEM82   TNFRSF1B   TNFRSF8   TRE-TTC3-1   TRG-CCC1-2   TRG-CCC5-1   TRN-GTT13-1   TRN-GTT4-1   TRNAG1   TRQ-CTG14-1   UBIAD1   UBR4   UBXN10   UBXN10-AS1   UQCRHL   USP48   VPS13D   VWA5B1   WNT4   ZBTB17   ZBTB40  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_10556797)_(22557907_?)del
Human AssemblyChrPosition (strand)Source
GRCh38110,556,797 - 22,557,907CLINVAR
GRCh37110,616,854 - 22,884,400CLINVAR
Build 36110,539,441 - 22,756,987CLINVAR
Cytogenetic Map11p36.22-36.12CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8620675
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.