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Variant : CV71673 (GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3) Homo sapiens

Symbol: CV71673
Name: GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050687]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050687]|See cases [RCV000050687]
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   CICP24   CRCP   ERV3-1   GUSB   KCTD7   LINC00174   LINC01005   LINC01372   LINC02604   LOC100287704   LOC441242   MIR4283-2   MIR4650-1   MIR6839   RABGEF1   SBDS   SNORA15B-1   SNORA15B-2   SNORA22   SNORA22C   TMEM248   TPST1   TYW1   VKORC1L1   ZNF107   ZNF117   ZNF138   ZNF273   ZNF679   ZNF680   ZNF727   ZNF735   ZNF736   ZNF92  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_62570287)_(67823956_?)dup
NC_000007.13:g.(?_62030665)_(67288943_?)dup
NC_000007.12:g.(?_61668100)_(66926378_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38762,570,287 - 67,823,956CLINVAR
GRCh37762,030,665 - 67,288,943CLINVAR
Build 36761,668,100 - 66,926,378CLINVAR
Cytogenetic Map77q11.21-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617779
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.