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Variant : CV74481 (GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1) Homo sapiens

Symbol: CV74481
Name: GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|See cases [RCV000053757]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AADACL3   AADACL4   AGTRAP   ANGPTL7   C1orf127   C1orf158   C1orf167   CASZ1   CENPS   CENPS-CORT   CLCN6   CLSTN1   CORT   CTNNBIP1   DFFA   DHRS3   DISP3   DRAXIN   EXOSC10   FBXO2   FBXO44   FBXO6   HNRNPCL1   KIAA2013   KIF1B   LINC01647   LINC01784   LZIC   MAD2L2   MASP2   MFN2   MIIP   MIR4632   MIR5697   MIR6729   MIR6730   MIR7846   MTHFR   MTOR   MTOR-AS1   NMNAT1   NPPA   NPPA-AS1   NPPB   PEX14   PGD   PIK3CD   PIK3CD-AS1   PIK3CD-AS2   PLOD1   PRAMEF1   PRAMEF11   PRAMEF12   RBP7   RNU5E-1   SLC25A33   SNORA59A   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.(?_9406722)_(12852772_?)del
NC_000001.10:g.(?_9466781)_(12912625_?)del
NC_000001.9:g.(?_9389368)_(12835212_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3819,406,722 - 12,852,772CLINVAR
GRCh3719,466,781 - 12,912,625CLINVAR
Build 3619,389,368 - 12,835,212CLINVAR
Cytogenetic Map11p36.22-36.21CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620672
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.