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Variant : CV161888 (GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1) Homo sapiens

Symbol: CV161888
Name: GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1
Condition: See cases [RCV000140772]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACR   ADM2   ALG12   ARSA   BRD1   C22orf34   CERK   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   CRELD2   DENND6B   HDAC10   IL17REL   KLHDC7B   LINC00898   LINC01310   LINC01644   LMF2   MAPK11   MAPK12   MAPK8IP2   MIOX   MIR12114   MIR3201   MIR3667   MIR4535   MIR6821   MLC1   MOV10L1   NCAPH2   ODF3B   PANX2   PIM3   PLXNB2   PPP6R2   RABL2B   SBF1   SCO2   SELENOO   SHANK3   SYCE3   TAFA5   TBC1D22A   TBC1D22A-AS1   TRABD   TTLL8   TUBGCP6   TYMP   ZBED4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_46732445)_(50780522_?)del
Human AssemblyChrPosition (strand)Source
GRCh382246,732,445 - 50,780,522CLINVAR
GRCh372247,128,342 - 51,218,950CLINVAR
Build 362245,507,006 - 49,565,816CLINVAR
Cytogenetic Map2222q13.31-13.33CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9488301
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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