Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV159575 (GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3) Homo sapiens

Symbol: CV159575
Name: GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3
Condition: See cases [RCV000138780]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACTBL2   ADAMTS12   ADAMTS16   ADAMTS6   ADCY2   AGXT2   AHRR   AK6   AMACR   ANKH   ANKRA2   ANKRD33B   ANKRD55   ANXA2R   ARHGEF28   ARL15   ATPSCKMT   BASP1   BASP1-AS1   BDP1   BRD9   BRIX1   BTF3   C1QTNF3   C1QTNF3-AMACR   C5orf17   C5orf22   C5orf34   C5orf34-AS1   C5orf38   C5orf49   C5orf51   C5orf64   C5orf64-AS1   C5orf67   C6   C7   C9   CAPSL   CARD6   CARTPT   CCDC125   CCDC127   CCDC152   CCL28   CCNB1   CCNO   CCT5   CD180   CDC20B   CDH10   CDH12   CDH18   CDH18-AS1   CDH6   CDH9   CDK7   CENPH   CENPK   CEP72   CLPTM1L   CMBL   CPLANE1   CTNND2   CWC27   DAB2   DAP   DDX4   DEPDC1B   DHX29   DIMT1   DNAH5   DNAJC21   DROSHA   EGFLAM   EGFLAM-AS2   EGFLAM-AS4   ELOVL7   EMB   ERBIN   ERCC8   ERCC8-AS1   ESM1   EXOC3   EXOC3-AS1   FASTKD3   FBXL7   FBXO4   FCHO2   FGF10   FGF10-AS1   FOXD1   FST   FYB1   GAPT   GDNF   GDNF-AS1   GHR   GOLPH3   GPBP1   GPX8   GTF2H2   GTF2H2C   GZMA   GZMK   H3Y1   H3Y2   HCN1   HMGCS1   HSPB3   HTR1A   ICE1   IL31RA   IL6ST   IL7R   IPO11   IRX1   IRX2   IRX4   IRX4-AS1   ISL1   ITGA1   ITGA2   KIF2A   LIFR   LIFR-AS1   LINC00603   LINC01017   LINC01018   LINC01019   LINC01020   LINC01033   LINC01157   LINC01194   LINC01265   LINC01331   LINC01333   LINC01335   LINC01377   LINC01386   LINC01511   LINC01948   LINC02056   LINC02057   LINC02061   LINC02063   LINC02064   LINC02065   LINC02101   LINC02102   LINC02103   LINC02104   LINC02105   LINC02106   LINC02107   LINC02108   LINC02109   LINC02110   LINC02111   LINC02112   LINC02114   LINC02116   LINC02118   LINC02119   LINC02120   LINC02121   LINC02122   LINC02123   LINC02142   LINC02145   LINC02146   LINC02149   LINC02150   LINC02160   LINC02162   LINC02197   LINC02198   LINC02199   LINC02211   LINC02212   LINC02213   LINC02217   LINC02218   LINC02219   LINC02220   LINC02221   LINC02223   LINC02224   LINC02225   LINC02226   LINC02228   LINC02229   LINC02230   LINC02236   LINC02239   LINC02241   LINC02242   LMBRD2   LOC153684   LPCAT1   LRRC14B   LRRC70   LSINCT5   MAP1B   MAP3K1   MARCHF11   MARCHF6   MARVELD2   MAST4   MAST4-AS1   MCCC2   MCIDAS   MED10   MIER3   MIR10397   MIR10522   MIR3650   MIR4277   MIR4278   MIR4279   MIR4456   MIR4457   MIR4458   MIR4458HG   MIR449A   MIR449B   MIR449C   MIR4635   MIR4636   MIR4637   MIR4803   MIR4804   MIR548AE2   MIR5687   MIR579   MIR580   MIR581   MIR582   MIR6075   MIR6131   MIR887   MOCS2   MROH2B   MRPL36   MRPS27   MRPS30   MRPS30-DT   MRPS36   MTMR12   MTREX   MTRR   MYO10   NADK2   NAIP   NDUFAF2   NDUFS4   NDUFS6   NIM1K   NIPBL   NIPBL-DT   NKD2   NLN   NNT   NNT-AS1   NPR3   NSUN2   NUP155   OCLN   OSMR   OSMR-AS1   OTULIN   OTULINL   OXCT1   OXCT1-AS1   PAIP1   PARP8   PART1   PDCD6   PDE4D   PDZD2   PELO   PIK3R1   PLCXD3   PLEKHG4B   PLK2   PLPP1   PPWD1   PRDM9   PRKAA1   PRLR   PTCD2   PTGER4   PURPL   RAB3C   RAD1   RAD17   RAI14   RANBP3L   RETREG1   RGS7BP   RICTOR   RNF180   ROPN1L   ROPN1L-AS1   RPL37   RXFP3   SDHA   SELENOP   SEMA5A   SEMA5A-AS1   SERF1A   SERF1B   SETD9   SGTB   SHISAL2B   SHLD3   SKP2   SLC12A7   SLC1A3   SLC30A5   SLC38A9   SLC45A2   SLC6A18   SLC6A19   SLC6A3   SLC9A3   SLC9A3-AS1   SMIM15   SMIM15-AS1   SMN1   SMN2   SNHG18   SNORA105A   SNORA50D   SNORD123   SNORD13B-1   SNORD13B-2   SNORD141B   SNORD170   SNORD72   SNX18   SPEF2   SRD5A1   SREK1   SREK1IP1   SUB1   TAF9   TARS1   TAS2R1   TENT4A   TERT   TMEM171   TMEM174   TMEM267   TNPO1   TPPP   TRAPPC13   TRIM23   TRIO   TRIP13   TTC23L   TTC33   UBE2QL1   UGT3A1   UGT3A2   UTP15   WDR70   ZDHHC11   ZDHHC11B   ZFR   ZNF131   ZNF366   ZNF622   ZSWIM6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_22149)_(74412725_?)dup
NC_000005.9:g.(?_22149)_(73708550_?)dup
NC_000005.8:g.(?_75149)_(73744306_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38522,149 - 74,412,725CLINVAR
GRCh37522,149 - 73,708,550CLINVAR
Build 36575,149 - 73,744,306CLINVAR
Cytogenetic Map55p15.33-q13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486317
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

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