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Variant : CV155736 (GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1) Homo sapiens

Symbol: CV155736
Name: GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1
Condition: See cases [RCV000135311]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AASS   ANKRD7   ASB15   ASB15-AS1   ASZ1   C7orf77   CADPS2   CAPZA2   CAV1   CAV2   CFTR   CFTR-AS1   COMETT   CPED1   CTTNBP2   FAM3C   FEZF1   FEZF1-AS1   FOXP2   GPR37   HYAL4   ING3   IQUB   KCND2   LINC01392   LINC01393   LINC02476   LINC02830   LMOD2   LSM8   MDFIC   MET   MIR3666   MIR6132   NDUFA5   POT1   POT1-AS1   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.(?_114142477)_(125840381_?)del
Human AssemblyChrPosition (strand)Source
GRCh387114,142,477 - 125,840,381CLINVAR
GRCh377113,782,532 - 125,480,435CLINVAR
Build 367113,569,768 - 125,267,671CLINVAR
Cytogenetic Map77q31.1-31.33CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9482884
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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