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Variant : CV74336 (GRCh38/hg38 8p23.3-23.1(chr8:2475295-7895064)x4) Homo sapiens

Symbol: CV74336
Name: GRCh38/hg38 8p23.3-23.1(chr8:2475295-7895064)x4
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|See cases [RCV000053605]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AGPAT5   ANGPT2   CSMD1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB4A   DEFB4B   FAM66B   FAM90A10P   FAM90A13P   FAM90A14P   FAM90A15P   FAM90A18P   FAM90A19P   FAM90A20P   FAM90A3P   FAM90A5P   FAM90A7P   FAM90A8P   FAM90A9P   LINC00965   MCPH1   MCPH1-AS1   MIR4659A   MIR4659B   MIR8055   PRR23D1   PRR23D2   SPAG11A   SPAG11B   USP17L1   USP17L4   XKR5   ZNF705G  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_2475295)_(7895064_?)dup
NC_000008.10:g.(?_2292235)_(7752586_?)dup
NC_000008.9:g.(?_2193565)_(7789996_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3882,475,295 - 7,895,064CLINVAR
GRCh3782,292,235 - 7,752,586CLINVAR
Build 3682,193,565 - 7,789,996CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620526
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.