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Variant : CV72989 (GRCh38/hg38 5q34-35.1(chr5:166371405-171390034)x1) Homo sapiens

Symbol: CV72989
Name: GRCh38/hg38 5q34-35.1(chr5:166371405-171390034)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052148]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052148]|See cases [RCV000052148]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: C5orf58   DOCK2   FBLL1   FOXI1   GABRP   INSYN2B   KCNIP1   KCNMB1   LCP2   LINC01187   LINC01366   LINC01947   MIR103A1   MIR103B1   MIR218-2   MIR378E   MIR3912   MIR585   NPM1   PANK3   RANBP17   RARS1   SLIT3   SPDL1   TENM2   TLX3   USP12P1   WWC1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_166371405)_(171390034_?)del
NC_000005.9:g.(?_165798410)_(170817038_?)del
NC_000005.8:g.(?_165730988)_(170749643_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh385166,371,405 - 171,390,034CLINVAR
GRCh375165,798,410 - 170,817,038CLINVAR
Build 365165,730,988 - 170,749,643CLINVAR
Cytogenetic Map55q34-35.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8619152
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.