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Variant : CV74065 (GRCh38/hg38 5q31.1(chr5:132301874-134187817)x3) Homo sapiens

Symbol: CV74065
Name: GRCh38/hg38 5q31.1(chr5:132301874-134187817)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053312]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053312]|See cases [RCV000053312]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AFF4   C5orf15   CCNI2   FSTL4   GDF9   HSPA4   IL13   IL4   IL5   IRF1   IRF1-AS1   KIF3A   LEAP2   MIR1289-2   MIR3936   MIR3936HG   RAD50   SEPTIN8   SHROOM1   SKP1   SLC22A4   SLC22A5   SOWAHA   TCF7   TH2LCRR   UQCRQ   VDAC1   WSPAR   ZCCHC10  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_132301874)_(134187817_?)dup
NC_000005.9:g.(?_131637567)_(133523508_?)dup
NC_000005.8:g.(?_131665466)_(133551407_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh385132,301,874 - 134,187,817CLINVAR
GRCh375131,637,567 - 133,523,508CLINVAR
Build 365131,665,466 - 133,551,407CLINVAR
Cytogenetic Map55q31.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620249
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.