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Variant : CV72944 (GRCh38/hg38 14q32.33(chr14:105141364-105987610)x3) Homo sapiens

Symbol: CV72944
Name: GRCh38/hg38 14q32.33(chr14:105141364-105987610)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052102]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052102]|See cases [RCV000052102]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BRF1   BTBD6   CRIP1   CRIP2   FAM30A   IGH   IGHA1   IGHA2   IGHD   IGHD1-1   IGHD1-14   IGHD1-20   IGHD1-26   IGHD1-7   IGHD2-15   IGHD2-2   IGHD2-21   IGHD2-8   IGHD3-10   IGHD3-16   IGHD3-22   IGHD3-3   IGHD3-9   IGHD4-11   IGHD4-17   IGHD4-23   IGHD4-4   IGHD5-12   IGHD5-18   IGHD5-24   IGHD5-5   IGHD6-13   IGHD6-19   IGHD6-25   IGHD6-6   IGHD7-27   IGHE   IGHG1   IGHG2   IGHG3   IGHG4   IGHJ1   IGHJ2   IGHJ3   IGHJ4   IGHJ5   IGHJ6   IGHM   IGHV1-2   IGHV6-1   JAG2   MIR4507   MIR4537   MIR4538   MIR4539   MIR6765   MIR8071-1   MIR8071-2   MTA1   NUDT14   PACS2   TEDC1   TEX22   TMEM121  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_105141364)_(105987610_?)dup
NC_000014.8:g.(?_105607701)_(106453697_?)dup
NC_000014.7:g.(?_104678746)_(105524742_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3814105,141,364 - 105,987,610CLINVAR
GRCh3714105,607,701 - 106,453,697CLINVAR
Build 3614104,678,746 - 105,524,742CLINVAR
Cytogenetic Map1414q32.33CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8619106
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.