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Variant : CV74169 (GRCh38/hg38 5p15.33-15.32(chr5:22149-4580491)x1) Homo sapiens

Symbol: CV74169
Name: GRCh38/hg38 5p15.33-15.32(chr5:22149-4580491)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|See cases [RCV000053417]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AHRR   BRD9   C5orf38   CCDC127   CEP72   CLPTM1L   EXOC3   EXOC3-AS1   IRX1   IRX2   IRX4   LINC01017   LINC01019   LINC01377   LINC01511   LINC02063   LINC02116   LINC02162   LPCAT1   LRRC14B   MIR4277   MIR4456   MIR4457   MIR4635   MIR6075   MRPL36   NDUFS6   NKD2   PDCD6   PLEKHG4B   SDHA   SLC12A7   SLC6A18   SLC6A19   SLC6A3   SLC9A3   SLC9A3-AS1   TERT   TPPP   TRIP13   ZDHHC11   ZDHHC11B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_22149)_(4580491_?)del
NC_000005.9:g.(?_22149)_(4580604_?)del
NC_000005.8:g.(?_75149)_(4633604_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38522,149 - 4,580,491CLINVAR
GRCh37522,149 - 4,580,604CLINVAR
Build 36575,149 - 4,633,604CLINVAR
Cytogenetic Map55p15.33-15.32CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8620354
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.