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Variant : CV248002 (GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3) Homo sapiens

Symbol: CV248002
Name: GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3
Condition: See cases [RCV000240108]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ACSF3   ADAD2   ADAMTS18   ADAT1   ANKRD11   APRT   ATMIN   ATP2C2   BANP   BCAR1   BCO1   C16orf46   C16orf74   C16orf95   CA5A   CBFA2T3   CDH13   CDH15   CDK10   CDT1   CDYL2   CENPBD1   CENPN   CFDP1   CHMP1A   CHST5   CHST6   CIBAR2   CLEC3A   CMC2   CMIP   CNTNAP4   COTL1   COX4I1   CPNE7   CRISPLD2   CTRB1   CTRB2   CTU2   CYBA   DBNDD1   DEF8   DNAAF1   DPEP1   DYNLRB2   EMC8   FANCA   FBXO31   FENDRR   FOXC2   FOXF1   FOXL1   GABARAPL2   GALNS   GAN   GAS8   GAS8-AS1   GCSH   GINS2   GSE1   HSBP1   HSD17B2   HSDL1   IL17C   IRF8   JPH3   KARS1   KCNG4   KIAA0513   KLHDC4   KLHL36   LDHD   LINC01082   MAF   MAP1LC3B   MBTPS1   MC1R   MEAK7   MLYCD   MON1B   MPHOSPH6   MTHFSD   MVD   NECAB2   NUDT7   OSGIN1   PABPN1L   PIEZO1   PKD1L2   PLCG2   PRDM7   RNF166   RPL13   SDR42E1   SLC22A31   SLC38A8   SLC7A5   SNAI3   SPATA2L   SPATA33   SPG7   SPIRE2   SYCE1L   TAF1C   TCF25   TERF2IP   TMEM170A   TMEM231   TRAPPC2L   TUBB3   USP10   VAT1L   VPS9D1   WDR59   WFDC1   WWOX   ZC3H18   ZCCHC14   ZDHHC7   ZFP1   ZFPM1   ZNF276   ZNF469   ZNF778   ZNRF1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371674,872,514 - 90,274,440CLINVAR
Cytogenetic Map1616q23.1-24.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541610
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-01-14
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.