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Variant : CV436719 (GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1) Homo sapiens

Symbol: CV436719
Name: GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1
Condition: See cases [RCV000511220]
Clinical Significance: pathogenic
Last Evaluated: 08/01/2014
Review Status: no assertion criteria provided
Related Genes: ACR   ADM2   ALG12   ARSA   ATXN10   BRD1   CDPF1   CELSR1   CERK   CHKB   CPT1B   CRELD2   DENND6B   FAM118A   FBLN1   GRAMD4   GTSE1   HDAC10   IL17REL   KIAA0930   KLHDC7B   LMF2   MAPK11   MAPK12   MAPK8IP2   MIOX   MIRLET7A3   MIRLET7B   MLC1   MOV10L1   NCAPH2   NUP50   ODF3B   PANX2   PHF21B   PIM3   PKDREJ   PLXNB2   PPARA   PPP6R2   PRR34   RIBC2   SBF1   SCO2   SELENOO   SHANK3   SMC1B   SYCE3   TAFA5   TBC1D22A   TRABD   TRMU   TTC38   TTLL8   TUBGCP6   TYMP   UPK3A   WNT7B   ZBED4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372245,261,208 - 51,197,838CLINVAR
Cytogenetic Map2222q13.31-13.33CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13444195
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE


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