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Variant : CV74475 (GRCh38/hg38 9p13.3(chr9:34340255-35163258)x3) Homo sapiens

Symbol: CV74475
Name: GRCh38/hg38 9p13.3(chr9:34340255-35163258)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|See cases [RCV000053751]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARID3C   C9orf131   C9orf24   CCL19   CCL21   CCL27   CNTFR   CNTFR-AS1   DCTN3   DNAI1   DNAJB5   DNAJB5-DT   ENHO   FAM205A   FAM205C   FAM214B   FAM219A   FANCG   GALT   IL11RA   MYORG   NUDT2   PHF24   PIGO   RPP25L   SIGMAR1   STOML2   UNC13B   VCP  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_34340255)_(35163258_?)dup
NC_000009.11:g.(?_34340253)_(35163255_?)dup
NC_000009.10:g.(?_34330253)_(35153255_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38934,340,255 - 35,163,258CLINVAR
GRCh37934,340,253 - 35,163,255CLINVAR
Build 36934,330,253 - 35,153,255CLINVAR
Cytogenetic Map99p13.3CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620666
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.