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Variant : CV157272 (GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1) Homo sapiens

Symbol: CV157272
Name: GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1
Condition: See cases [RCV000136695]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACAP3   ACOT7   ACTRT2   AGRN   AGTRAP   AJAP1   ANGPTL7   ANKRD65   ARHGEF16   ATAD3A   ATAD3B   ATAD3C   AURKAIP1   B3GALT6   C1orf127   C1orf159   C1orf167   C1orf167-AS1   C1orf174   C1QTNF12   CA6   CALML6   CAMTA1   CAMTA1-AS1   CAMTA1-AS2   CAMTA1-DT   CAMTA1-IT1   CASZ1   CCDC27   CCNL2   CDK11A   CDK11B   CENPS   CENPS-CORT   CEP104   CFAP74   CHD5   CLCN6   CLSTN1   CORT   CPTP   CTNNBIP1   DFFA   DFFB   DISP3   DNAJC11   DRAXIN   DVL1   ENO1   ENO1-AS1   ERRFI1   ESPN   EXOSC10   EXOSC10-AS1   FAAP20   FAM41C   FBXO2   FBXO44   FBXO6   FNDC10   GABRD   GNB1   GPR153   GPR157   H6PD   HES2   HES3   HES4   HES5   ICMT   INTS11   ISG15   KCNAB2   KIAA2013   KIF1B   KLHL17   KLHL21   LINC00337   LINC01128   LINC01134   LINC01342   LINC01345   LINC01346   LINC01646   LINC01647   LINC01672   LINC01714   LINC01770   LINC01777   LINC01786   LINC02593   LINC02606   LINC02782   LNCTAM34A   LRRC47   LZIC   MAD2L2   MASP2   MEGF6   MFN2   MIB2   MIIP   MIR200A   MIR200B   MIR34A   MIR34AHG   MIR4251   MIR4252   MIR429   MIR4632   MIR4689   MIR551A   MIR5697   MIR6726   MIR6727   MIR6728   MIR6729   MIR6808   MIR7846   MMEL1   MMEL1-AS1   MMP23B   MORN1   MRPL20   MRPL20-AS1   MTHFR   MTOR   MTOR-AS1   MXRA8   NADK   NMNAT1   NOC2L   NOL9   NPHP4   NPPA   NPPA-AS1   NPPB   PANK4   PARK7   PER3   PERM1   PEX10   PEX14   PGD   PHF13   PIK3CD   PIK3CD-AS1   PIK3CD-AS2   PLCH2   PLEKHG5   PLEKHN1   PLOD1   PRDM16   PRDM16-DT   PRKCZ   PRKCZ-AS1   PRXL2B   PUSL1   RBP7   RER1   RERE   RERE-AS1   RNF207   RNF223   RNU5E-1   RPL22   SAMD11   SCNN1D   SDF4   SKI   SLC25A33   SLC2A5   SLC2A7   SLC35E2A   SLC35E2B   SLC45A1   SMIM1   SNORD128   SNORD167   SPSB1   SRM   SSU72   TARDBP   TAS1R1   TAS1R3   THAP3   TMEM201   TMEM240   TMEM52   TMEM88B   TNFRSF14   TNFRSF14-AS1   TNFRSF18   TNFRSF1B   TNFRSF25   TNFRSF4   TNFRSF8   TNFRSF9   TP73   TP73-AS1   TPRG1L   TTC34   TTLL10   TTLL10-AS1   UBE2J2   UBE4B   UBIAD1   UTS2   VAMP3   VPS13D   VWA1   WRAP73   ZBTB48  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_844347)_(12470133_?)del
NC_000001.10:g.(?_779727)_(12530188_?)del
NC_000001.9:g.(?_769590)_(12452775_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381844,347 - 12,470,133CLINVAR
GRCh371779,727 - 12,530,188CLINVAR
Build 361769,590 - 12,452,775CLINVAR
Cytogenetic Map11p36.33-36.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484256
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.