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Variant : CV71641 (GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1) Homo sapiens

Symbol: CV71641
Name: GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050639]|See cases [RCV000050639]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARHGEF35   ARHGEF35-AS1   CASP2   CLCN1   CTAGE15   CTAGE4   CTAGE6   EPHA1   EPHA1-AS1   EPHB6   FAM131B   GSTK1   KEL   LLCFC1   MIR6892   MTRNR2L6   OR10AC1   OR2A1-AS1   OR2A12   OR2A14   OR2A2   OR2A25   OR2A42   OR2A5   OR2F1   OR2F2   OR6B1   OR6V1   OR9A2   PIP   PRSS1   PRSS2   TAS2R39   TAS2R40   TAS2R41   TAS2R60   TCAF1   TCAF2   TMEM139   TRB   TRBC1   TRBC2   TRBD1   TRBD2   TRBJ1-1   TRBJ1-2   TRBJ1-3   TRBJ1-4   TRBJ1-5   TRBJ1-6   TRBJ2-1   TRBJ2-2   TRBJ2-3   TRBJ2-4   TRBJ2-5   TRBJ2-6   TRBJ2-7   TRBV12-5   TRBV14   TRBV15   TRBV17   TRBV18   TRBV19   TRBV20-1   TRBV24-1   TRBV25-1   TRBV27   TRBV28   TRBV29-1   TRBV30   TRPV5   TRPV6   ZYX  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_142578948)_(144254897_?)del
NC_000007.13:g.(?_142528609)_(143951990_?)del
NC_000007.12:g.(?_141967554)_(143582923_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh387142,578,948 - 144,254,897CLINVAR
GRCh377142,528,609 - 143,951,990CLINVAR
Build 367141,967,554 - 143,582,923CLINVAR
Cytogenetic Map77q34-35CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617742
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.