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Variant : CV74111 (GRCh38/hg38 16q23.1(chr16:75163906-78064640)x1) Homo sapiens

Symbol: CV74111
Name: GRCh38/hg38 16q23.1(chr16:75163906-78064640)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]|See cases [RCV000053358]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAMTS18   ADAT1   BCAR1   CFDP1   CHST5   CHST6   CLEC3A   CNTNAP4   CPHXL   CTRB1   CTRB2   DUXB   GABARAPL2   KARS1   LINC02125   LINC02131   MIR4719   MON1B   NUDT7   SYCE1L   TERF2IP   TMEM170A   TMEM231   VAT1L   ZFP1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_75163906)_(78064640_?)del
NC_000016.9:g.(?_75197804)_(78098537_?)del
NC_000016.8:g.(?_73755305)_(76656038_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381675,163,906 - 78,064,640CLINVAR
GRCh371675,197,804 - 78,098,537CLINVAR
Build 361673,755,305 - 76,656,038CLINVAR
Cytogenetic Map1616q23.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620295
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.