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Variant : CV382183 (GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1) Homo sapiens

Symbol: CV382183
Name: GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1
Condition: See cases [RCV000446959]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AP3S1   APC   ARL14EPL   ATG12   CAMK4   CCDC112   CDO1   COMMD10   DCP2   DMXL1   DTWD2   EPB41L4A   FAM170A   FEM1C   FTMT   HSD17B4   KCNN2   LOX   LVRN   MCC   NREP   PGGT1B   PPIC   PRDM6   PRR16   REEP5   SEMA6A   SNCAIP   SNX2   SNX24   SRFBP1   SRP19   STARD4   TICAM2   TMED7   TMED7-TICAM2   TNFAIP8   TRIM36   TSLP   TSSK1B   WDR36   YTHDC2   ZNF474  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh375110,407,606 - 122,522,885CLINVAR
Cytogenetic Map55q22.1-23.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 12851679
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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