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Variant : CV75054 (GRCh38/hg38 17q11.2(chr17:30613848-31875279)x1) Homo sapiens

Symbol: CV75054
Name: GRCh38/hg38 17q11.2(chr17:30613848-31875279)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054360]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054360]|See cases [RCV000054360]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAP2   ATAD5   COPRS   CRLF3   EVI2A   EVI2B   MIR193A   MIR365B   MIR4724   MIR4725   MIR4733   NF1   OMG   RAB11FIP4   RNF135   TEFM   TRT-CGT4-1   UTP6  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_30613848)_(31875279_?)del
NC_000017.10:g.(?_28940866)_(30202298_?)del
NC_000017.9:g.(?_25964992)_(27226411_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381730,613,848 - 31,875,279CLINVAR
GRCh371728,940,866 - 30,202,298CLINVAR
Build 361725,964,992 - 27,226,411CLINVAR
Cytogenetic Map1717q11.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8621248
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.