Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV74881 (GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1) Homo sapiens

Symbol: CV74881
Name: GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1
Condition: Intellectual functioning disability [RCV000054160]|See cases [RCV000054160]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AASS   ANKRD7   ASB15   ASB15-AS1   ASZ1   C7orf77   CADPS2   CAPZA2   CAV1   CAV2   CFTR   CFTR-AS1   CPED1   CTTNBP2   FAM3C   FEZF1   FEZF1-AS1   FOXP2   GPR37   HYAL4   ING3   IQUB   KCND2   LINC01392   LINC01393   LINC01510   LINC02476   LMOD2   LSM8   MDFIC   MET   MIR3666   MIR6132   NDUFA5   POT1   PPP1R3A   PTPRZ1   RNF133   RNF148   SLC13A1   SNORA25B   SPAM1   ST7   ST7-AS1   ST7-AS2   ST7-OT3   ST7-OT4   TAS2R16   TES   TFEC   TMEM229A   TSPAN12   WASL   WNT16   WNT2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_113799835)_(124899218_?)del
NC_000007.13:g.(?_113439890)_(124539272_?)del
NC_000007.12:g.(?_113227126)_(124326508_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh387113,799,835 - 124,899,218CLINVAR
GRCh377113,439,890 - 124,539,272CLINVAR
Build 367113,227,126 - 124,326,508CLINVAR
Cytogenetic Map77q31.1-31.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8621073
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.