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

Variant : CV73730 (GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1) Homo sapiens

Symbol: CV73730
Name: GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1
Condition: Abnormality of the midface [RCV000052935]|See cases [RCV000052935]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABL1   AIF1L   ASS1   EXOSC2   FAM78A   FIBCD1   FNBP1   FUBP3   GPR107   GPRACR   HMCN2   LAMC3   MED27   MIR12126   MIR6856   NCS1   NTNG2   NUP214   PLPP7   POMT1   PRDM12   PRRC2B   PRRT1B   QRFP   RAPGEF1   SETX   SNORD62A   SNORD62B   UCK1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_129949815)_(132342490_?)del
Human AssemblyChrPosition (strand)Source
GRCh389129,949,815 - 132,342,490CLINVAR
GRCh379132,712,094 - 135,217,877CLINVAR
Build 369131,751,915 - 134,207,698CLINVAR
Cytogenetic Map99q34.11-34.13CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8619904
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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