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Variant : CV72374 (GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1) Homo sapiens

Symbol: CV72374
Name: GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1
Condition: Macrocephaly [RCV000051519]|See cases [RCV000051519]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD12B   ATG14   ATL1   BMP4   CDKN3   CGRRF1   CNIH1   DDHD1   DLGAP5   ERO1A   FBXO34   FERMT2   FRMD6   FRMD6-AS1   FRMD6-AS2   GCH1   GMFB   GNG2   GNPNAT1   GPR137C   KTN1   KTN1-AS1   LGALS3   LINC00519   LINC00520   LINC00640   LINC02310   LINC02319   LINC02331   MAPK1IP1L   MIR4308   MIR5580   NID2   NIN   PELI2   PSMC6   PTGDR   PTGER2   PYGL   RTRAF   SAMD4A   SAV1   SOCS4   STYX   TBPL2   TMX1   TRIM9   TXNDC16   WDHD1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_50591011)_(56286919_?)del
NC_000014.8:g.(?_51057729)_(56753637_?)del
NC_000014.7:g.(?_50127479)_(55823390_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381450,591,011 - 56,286,919CLINVAR
GRCh371451,057,729 - 56,753,637CLINVAR
Build 361450,127,479 - 55,823,390CLINVAR
Cytogenetic Map1414q22.1-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618534
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.