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Variant : CV74877 (GRCh38/hg38 7q22.1-22.3(chr7:101700341-105162893)x1) Homo sapiens

Symbol: CV74877
Name: GRCh38/hg38 7q22.1-22.3(chr7:101700341-105162893)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054156]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054156]|See cases [RCV000054156]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALKBH4   ARMC10   CUX1   DNAJC2   FAM185A   FBXL13   KMT2E   KMT2E-AS1   LHFPL3   LHFPL3-AS1   LHFPL3-AS2   LINC01004   LRRC17   LRWD1   MIR4285   MIR4467   MIR5090   MIR548O   NAPEPLD   NFE4   ORAI2   ORC5   PMPCB   POLR2J   POLR2J2   POLR2J3   PRKRIP1   PSMC2   RASA4   RASA4B   RELN   SH2B2   SLC26A5   SPDYE2   SPDYE2B   SPDYE6   SRPK2   UPK3BL1   UPK3BL2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_101700341)_(105162893_?)del
NC_000007.13:g.(?_101343621)_(104803340_?)del
NC_000007.12:g.(?_101130341)_(104590576_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh387101,700,341 - 105,162,893CLINVAR
GRCh377101,343,621 - 104,803,340CLINVAR
Build 367101,130,341 - 104,590,576CLINVAR
Cytogenetic Map77q22.1-22.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8621069
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.