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Variant : CV74489 (GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1) Homo sapiens

Symbol: CV74489
Name: GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1
Condition: Nonsyndromic microcephaly [RCV000053765]|See cases [RCV000053765]
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   AGMAT   AGTRAP   ANGPTL7   ARHGEF19   C1orf127   C1orf158   C1orf167   C1orf167-AS1   C1orf195   CASP9   CELA2A   CELA2B   CLCN6   CLCNKA   CLCNKB   CPLANE2   CTRC   DDI2   DHRS3   DISP3   DNAJC16   DRAXIN   EFHD2   EPHA2   EXOSC10   EXOSC10-AS1   FAM131C   FBLIM1   FBXO2   FBXO42   FBXO44   FBXO6   FHAD1   FHAD1-AS1   HNRNPCL1   HNRNPCL2   HNRNPCL3   HNRNPCL4   HSPB7   KAZN   KAZN-AS1   KIAA2013   LINC01647   LINC01784   LINC02766   LRRC38   MAD2L2   MASP2   MFN2   MIIP   MIR4632   MIR6729   MIR6730   MIR7846   MTHFR   MTOR   MTOR-AS1   NPPA   NPPA-AS1   NPPB   PDPN   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   RNU5E-1   RSC1A1   SCARNA21B   SLC25A34   SLC25A34-AS1   SNORA59A   SPATA21   SPEN   SRARP   SRM   SZRD1   TARDBP   TMEM51   TMEM51-AS1   TMEM82   TNFRSF1B   TNFRSF8   UBIAD1   UQCRHL   VPS13D   ZBTB17  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_10809039)_(16422500_?)del
Human AssemblyChrPosition (strand)Source
GRCh38110,809,039 - 16,422,500CLINVAR
GRCh37110,869,096 - 16,748,995CLINVAR
Build 36110,791,683 - 16,621,582CLINVAR
Cytogenetic Map11p36.22-36.13CLINVAR
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: 8620680
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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