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Variant : CV165433 (GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1) Homo sapiens

Symbol: CV165433
Name: GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1
Condition: See cases [RCV000143746]
Clinical Significance: pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAMTS19   ADAMTS19-AS1   ALDH7A1   AP3S1   APC   ARL14EPL   ARRDC3-AS1   ARSK   ATG12   C5orf63   CAMK4   CAST   CCDC112   CCDC192   CDC42SE2   CDO1   CEP120   CHD1   CHSY3   COMMD10   CSNK1G3   CTXN3   DCP2   DMXL1   DTWD2   EFNA5   ELL2   EPB41L4A   EPB41L4A-AS1   EPB41L4A-DT   ERAP1   ERAP2   FAM170A   FAM172A   FAM174A   FAM81B   FBN2   FBXL17   FEM1C   FER   FTMT   GIN1   GLRX   GPR150   GRAMD2B   HINT1   HSD17B4   ISOC1   KCNN2   KIAA0825   LINC00491   LINC00492   LINC00992   LINC01023   LINC01170   LINC01184   LINC01340   LINC01554   LINC01846   LINC01848   LINC01950   LINC01957   LINC02039   LINC02062   LINC02113   LINC02115   LINC02147   LINC02148   LINC02200   LINC02201   LINC02208   LINC02214   LINC02215   LINC02216   LINC02234   LINC02240   LINCADL   LIX1   LIX1-AS1   LMNB1   LMNB1-DT   LNPEP   LOX   LVRN   LYRM7   MACIR   MAN2A1   MARCHF3   MCC   MCTP1   MEGF10   MINAR2   MIR12130   MIR1244-2   MIR2277   MIR4460   MIR4633   MIR548F3   MIR548P   MIR5706   MIR583   NR2F1   NR2F1-AS1   NREP   NREP-AS1   NUDT12   PAM   PCSK1   PGGT1B   PHAX   PJA2   POU5F2   PPIC   PPIP5K2   PRDM6   PRR16   PRRC1   REEP5   RFESD   RGMB   RGMB-AS1   RHOBTB3   RIOK2   SEMA6A   SEMA6A-AS1   SEMA6A-AS2   SLC12A2   SLC25A46   SLC27A6   SLCO4C1   SLCO6A1   SLF1   SNCAIP   SNORA13   SNX2   SNX24   SPATA9   SRFBP1   SRP19   ST8SIA4   STARD4   STARD4-AS1   TEX43   TICAM2   TMED7   TMED7-TICAM2   TMEM232   TNFAIP8   TRIM36   TSLP   TSSK1B   TTC37   WDR36   YTHDC2   ZNF474   ZNF608  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_91411708)_(131319563_?)del
Human AssemblyChrPosition (strand)Source
GRCh38591,411,708 - 131,319,563CLINVAR
GRCh37590,707,525 - 130,655,256CLINVAR
Build 36590,743,281 - 130,683,155CLINVAR
Cytogenetic Map55q14.3-31.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9491344
Created: 2014-09-09
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.