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Variant : CV383031 (GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1) Homo sapiens

Symbol: CV383031
Name: GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1
Condition: See cases [RCV000447857]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACR   ADM2   ALG12   ARSA   BRD1   CELSR1   CERK   CHKB   CPT1B   CRELD2   DENND6B   GRAMD4   HDAC10   IL17REL   KLHDC7B   LMF2   MAPK11   MAPK12   MAPK8IP2   MIOX   MLC1   MOV10L1   NCAPH2   ODF3B   PANX2   PIM3   PLXNB2   PPP6R2   SBF1   SCO2   SELENOO   SHANK3   SYCE3   TAFA5   TBC1D22A   TRABD   TTLL8   TUBGCP6   TYMP   ZBED4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372246,866,460 - 51,197,838CLINVAR
Cytogenetic Map2222q13.31-13.33CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12852570
Created: 2017-04-11
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.