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Variant : CV74514 (GRCh38/hg38 13q31.3-33.1(chr13:93213623-101537104)x3) Homo sapiens

Symbol: CV74514
Name: GRCh38/hg38 13q31.3-33.1(chr13:93213623-101537104)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|See cases [RCV000053790]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCC4   CLDN10   CLDN10-AS1   CLYBL   CLYBL-AS1   CLYBL-AS2   DCT   DNAJC3   DNAJC3-DT   DOCK9   DOCK9-AS1   DOCK9-DT   DZIP1   FARP1   GGACT   GPC6   GPC6-AS1   GPC6-AS2   GPR18   GPR180   GPR183   HS6ST3   IPO5   ITGBL1   LINC00359   LINC00411   LINC00449   LINC00456   LINC00554   LINC00557   LINC01039   LINC01232   MBNL2   MIR3170   MIR4306   MIR4501   MIR623   NALCN   NALCN-AS1   OXGR1   PCCA   PCCA-AS1   RAP2A   RNF113B   RNU6-83P   SLC15A1   SOX21   SOX21-AS1   STK24   STK24-AS1   TGDS   TM9SF2   TMTC4   TRF-GAA1-5   UBAC2   UBAC2-AS1   UGGT2   ZIC2   ZIC5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_93213623)_(101537104_?)dup
NC_000013.10:g.(?_93865876)_(102189455_?)dup
NC_000013.9:g.(?_92663877)_(100987456_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381393,213,623 - 101,537,104CLINVAR
GRCh371393,865,876 - 102,189,455CLINVAR
Build 361392,663,877 - 100,987,456CLINVAR
Cytogenetic Map1313q31.3-33.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620705
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.