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Variant : CV73760 (GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4) Homo sapiens

Symbol: CV73760
Name: GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|See cases [RCV000052965]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACSL3   AGFG1   AP1S3   C2orf83   CCDC140   CCL20   COL4A3   COL4A4   CUL3   DAW1   DOCK10   EPHA4   FAM124B   FARSB   INHA   IRS1   KCNE4   LINC01803   MFF   MIR3132   MIR4268   MIR4439   MIR5702   MIR5703   MOGAT1   MRPL44   NYAP2   OBSL1   PAX3   RHBDD1   SCG2   SERPINE2   SGPP2   SLC19A3   SLC4A3   SPHKAP   STK11IP   TM4SF20   TMEM198   WDFY1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_219547204)_(228287942_?)dup
NC_000002.11:g.(?_220411926)_(229152658_?)dup
NC_000002.10:g.(?_220120170)_(228860902_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382219,547,204 - 228,287,942CLINVAR
GRCh372220,411,926 - 229,152,658CLINVAR
Build 362220,120,170 - 228,860,902CLINVAR
Cytogenetic Map22q35-36.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8619934
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.