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Variant : CV435807 (GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1) Homo sapiens

Symbol: CV435807
Name: GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1
Condition: See cases [RCV000512008]
Clinical Significance: pathogenic
Last Evaluated: 07/15/2015
Review Status: no assertion criteria provided
Related Genes: ANKRD54   BAIAP2L2   C1QTNF6   C22orf23   CACNG2   CARD10   CDC42EP1   CSF2RB   CYTH4   EIF3D   EIF3L   ELFN2   FOXRED2   GALR3   GCAT   GGA1   H1-0   IFT27   IL2RB   KCTD17   LGALS1   LGALS2   MFNG   MICALL1   MIR659   MPST   NCF4   NOL12   PDXP   PICK1   PLA2G6   POLR2F   PVALB   RAC2   SH3BP1   SLC16A8   SOX10   SSTR3   TEX33   TMPRSS6   TRIOBP   TST   TXN2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372236,877,226 - 38,548,989CLINVAR
Cytogenetic Map2222q12.3-13.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13444976
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-09-22
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.