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Variant : CV71848 (GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3) Homo sapiens

Symbol: CV71848
Name: GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|See cases [RCV000050921]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter
Related Genes: ABHD13   ADPRHL1   ANKRD10   ARHGEF7   ATP11A   ATP11AUN   ATP4B   CARS2   CDC16   CHAMP1   COL4A1   COL4A2   CUL4A   DCUN1D2   F10   F7   GAS6   GRTP1   ING1   IRS2   LAMP1   LIG4   LINC00565   MCF2L   MYO16   NAXD   PCID2   PROZ   RAB20   RASA3   SOX1   SPACA7   TEX29   TFDP1   TMCO3   TMEM255B   TNFSF13B   TUBGCP3   UPF3A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_107918132)_(114327173_?)dup
NC_000013.10:g.(?_108570480)_(115092648_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3813107,918,132 - 114,327,173CLINVAR
GRCh3713108,570,480 - 115,092,648CLINVAR
Cytogenetic Map1313q33.3-34CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8617982
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2014-12-02
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.