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Variant : CV74880 (GRCh38/hg38 7q31.1-31.31(chr7:110524677-118306203)x1) Homo sapiens

Symbol: CV74880
Name: GRCh38/hg38 7q31.1-31.31(chr7:110524677-118306203)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054159]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054159]|See cases [RCV000054159]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANKRD7   ASZ1   BMT2   CAPZA2   CAV1   CAV2   CFTR   COMETT   CTTNBP2   DOCK4   DOCK4-AS1   FOXP2   GPR85   IFRD1   IMMP2L   LINC01392   LINC01393   LRRN3   LSM8   LSMEM1   MDFIC   MET   MIR3666   MIR6132   PPP1R3A   SMIM30   ST7   ST7-AS1   ST7-AS2   ST7-OT3   ST7-OT4   TES   TFEC   TMEM168   WNT2   ZNF277  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_110524677)_(118306203_?)del
NC_000007.13:g.(?_110164734)_(117946257_?)del
NC_000007.12:g.(?_109951970)_(117733493_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh387110,524,677 - 118,306,203CLINVAR
GRCh377110,164,734 - 117,946,257CLINVAR
Build 367109,951,970 - 117,733,493CLINVAR
Cytogenetic Map77q31.1-31.31CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8621072
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.