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Variant : CV74875 (GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1) Homo sapiens

Symbol: CV74875
Name: GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054154]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054154]|See cases [RCV000054154]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACHE   ACTL6B   AGFG2   AP4M1   ARPC1A   ARPC1B   ATP5MF   ATP5MF-PTCD1   AZGP1   BUD31   C7orf61   CASTOR3   CNPY4   COPS6   CPSF4   CYP3A4   CYP3A43   CYP3A5   CYP3A7   CYP3A7-CYP3A51P   EPHB4   EPO   FAM200A   FBXO24   GAL3ST4   GIGYF1   GJC3   GNB2   GPC2   LAMTOR4   LRCH4   MAP11   MBLAC1   MCM7   MEPCE   MIR106B   MIR12119   MIR25   MIR4658   MIR6840   MIR6875   MIR93   MOSPD3   NYAP1   OR2AE1   PCOLCE   PCOLCE-AS1   PDAP1   PILRA   PILRB   POP7   PPP1R35   PPP1R35-AS1   PTCD1   PVRIG   SAP25   SLC12A9   SLC12A9-AS1   SPDYE3   SRRT   STAG3   STAG3L5P-PVRIG2P-PILRB   TAF6   TFR2   TMEM225B   TRIM4   TRIP6   TRW-CCA5-1   TSC22D4   UFSP1   ZAN   ZCWPW1   ZKSCAN1   ZKSCAN5   ZNF3   ZNF394   ZNF655   ZNF789   ZSCAN21   ZSCAN25  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_99219420)_(100902269_?)del
NC_000007.13:g.(?_98817043)_(100499889_?)del
NC_000007.12:g.(?_98654979)_(100337825_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38799,219,420 - 100,902,269CLINVAR
GRCh37798,817,043 - 100,499,889CLINVAR
Build 36798,654,979 - 100,337,825CLINVAR
Cytogenetic Map77q22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8621067
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
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.