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Variant : CV556236 (GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1) Homo sapiens

Symbol: CV556236
Name: GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1
Condition: not provided [RCV000684527]
Clinical Significance: pathogenic
Last Evaluated: 12/29/2017
Review Status: no assertion criteria provided
Related Genes: ACR   ADM2   ALG12   ARHGAP8   ARSA   ATXN10   BIK   BRD1   CDPF1   CELSR1   CERK   CHKB   CPT1B   CRELD2   DENND6B   EFCAB6   FAM118A   FBLN1   GRAMD4   GTSE1   HDAC10   IL17REL   KIAA0930   KLHDC7B   LMF2   MAPK11   MAPK12   MAPK8IP2   MCAT   MIOX   MIRLET7A3   MIRLET7B   MLC1   MOV10L1   MPPED1   NCAPH2   NUP50   ODF3B   PACSIN2   PANX2   PARVB   PARVG   PHF21B   PIM3   PKDREJ   PLXNB2   PNPLA3   PNPLA5   PPARA   PPP6R2   PRR34   PRR5   PRR5-ARHGAP8   RIBC2   RTL6   SAMM50   SBF1   SCO2   SCUBE1   SELENOO   SHANK3   SHISAL1   SMC1B   SULT4A1   SYCE3   TAFA5   TBC1D22A   TRABD   TRMU   TSPO   TTC38   TTLL1   TTLL12   TTLL8   TUBGCP6   TYMP   UPK3A   WNT7B   ZBED4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372243,320,284 - 51,183,840CLINVAR
Cytogenetic Map2222q13.2-13.33CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13798769
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.