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Variant : CV71617 (GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1) Homo sapiens

Symbol: CV71617
Name: GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050606]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050606]|See cases [RCV000050606]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ASL   AUTS2   CALN1   CRCP   CT66   ERV3-1   GALNT17   GUSB   KCTD7   LINC00174   LINC01372   LINC02604   LOC441242   MIR3914-1   MIR3914-2   MIR4650-1   MIR6839   RABGEF1   SBDS   SNORA15B-1   SNORA15B-2   SNORA22   SNORA22C   TMEM248   TPST1   TYW1   VKORC1L1   ZNF107   ZNF117   ZNF138   ZNF273   ZNF92  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_64657050)_(72243063_?)del
NC_000007.13:g.(?_64117428)_(71708048_?)del
NC_000007.12:g.(?_63754863)_(71345984_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38764,657,050 - 72,243,063CLINVAR
GRCh37764,117,428 - 71,708,048CLINVAR
Build 36763,754,863 - 71,345,984CLINVAR
Cytogenetic Map77q11.21-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617714
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.