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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)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_113799835)_(124899218_?)del
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


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