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Variant : CV154048 (GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1) Homo sapiens

Symbol: CV154048
Name: GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1
Condition: See cases [RCV000133779]
Clinical Significance: pathogenic
Last Evaluated: 02/28/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AADACL4   AGTRAP   ANGPTL7   C1orf127   C1orf167   C1orf167-AS1   CASZ1   CENPS   CENPS-CORT   CLCN6   CLSTN1   CORT   CTNNBIP1   DFFA   DHRS3   DISP3   DRAXIN   EXOSC10   EXOSC10-AS1   FBXO2   FBXO44   FBXO6   GPR157   H6PD   KIAA2013   KIF1B   LINC01647   LINC02606   LINC02766   LNCTAM34A   LZIC   MAD2L2   MASP2   MFN2   MIIP   MIR34A   MIR34AHG   MIR4632   MIR5697   MIR6729   MIR6730   MIR7846   MTHFR   MTOR   MTOR-AS1   NMNAT1   NPPA   NPPA-AS1   NPPB   PEX14   PGD   PIK3CD   PIK3CD-AS1   PIK3CD-AS2   PLOD1   RBP7   RNU5E-1   SLC25A33   SLC2A5   SNORA59A   SPSB1   SRM   TARDBP   TMEM201   TNFRSF1B   TNFRSF8   UBE4B   UBIAD1   VPS13D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_9064492)_(12666744_?)del
NC_000001.10:g.(?_9124551)_(12726755_?)del
NC_000001.9:g.(?_9047138)_(12649342_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3819,064,492 - 12,666,744CLINVAR
GRCh3719,124,551 - 12,726,755CLINVAR
Build 3619,047,138 - 12,649,342CLINVAR
Cytogenetic Map11p36.23-36.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9481364
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.