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Variant : CV384172 (GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1) Homo sapiens

Symbol: CV384172
Name: GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1
Condition: See cases [RCV000445832]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACACB   ALDH1L2   ALKBH2   ANAPC7   ANKRD13A   APPL2   ARPC3   ASCL1   ASCL4   ATP2A2   BTBD11   C12orf42   C12orf45   C12orf73   C12orf75   C12orf76   CCDC63   CHST11   CKAP4   CMKLR1   CORO1C   CRY1   CUX2   DAO   EID3   FAM216A   FAM222A   FICD   FOXN4   GIT2   GLT8D2   GLTP   GPN3   HCFC2   HSP90B1   HVCN1   IFT81   ISCU   KCTD10   MMAB   MTERF2   MVK   MYL2   MYO1H   NFYB   NT5DC3   NUAK1   PAH   POLR3B   PPP1CC   PPTC7   PRDM4   PWP1   RAD9B   RFX4   RIC8B   SART3   SELPLG   SLC41A2   SSH1   STAB2   SVOP   TCHP   TCP11L2   TCTN1   TDG   TMEM119   TMEM263   TRPV4   TXNRD1   UBE3B   UNG   USP30   VPS29   WASHC4   WSCD2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3712103,044,333 - 111,639,805CLINVAR
Cytogenetic Map1212q23.2-24.11CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12850563
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-02-04
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.