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Variant : CV74725 (GRCh38/hg38 17p13.2(chr17:4141725-4841701)x3) Homo sapiens

Symbol: CV74725
Name: GRCh38/hg38 17p13.2(chr17:4141725-4841701)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054003]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054003]|See cases [RCV000054003]
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: ALOX15   ANKFY1   ARRB2   CXCL16   CYB5D2   GGT6   GLTPD2   LINC01996   MED11   MINK1   MYBBP1A   PELP1   PLD2   PSMB6   SMTNL2   SPNS2   SPNS3   TM4SF5   UBE2G1   VMO1   ZMYND15   ZZEF1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_4141725)_(4841701_?)dup
NC_000017.10:g.(?_4045019)_(4744996_?)dup
NC_000017.9:g.(?_3991768)_(4691654_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38174,141,725 - 4,841,701CLINVAR
GRCh37174,045,019 - 4,744,996CLINVAR
Build 36173,991,768 - 4,691,654CLINVAR
Cytogenetic Map1717p13.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620917
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.