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Variant : CV673130 (GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1) Homo sapiens

Symbol: CV673130
Name: GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1
Condition: not provided [RCV000846246]
Clinical Significance: pathogenic
Last Evaluated: 06/30/2017
Review Status: no assertion criteria provided
Related Genes: AP3S1   APC   ARL14EPL   ATG12   CAMK4   CCDC112   CDO1   COMMD10   DCP2   DMXL1   DTWD2   EPB41L4A   FAM170A   FEM1C   FER   FTMT   HSD17B4   KCNN2   LVRN   MAN2A1   MCC   NREP   PGGT1B   PJA2   PRR16   REEP5   SEMA6A   SLC25A46   SRFBP1   SRP19   STARD4   TICAM2   TMED7   TMED7-TICAM2   TMEM232   TNFAIP8   TRIM36   TSLP   TSSK1B   WDR36   YTHDC2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh375108,304,806 - 121,335,239CLINVAR
Cytogenetic Map55q21.3-23.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14976209
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-01-07
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.