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Variant : CV71995 (GRCh38/hg38 5p15.33(chr5:49978-4014647)x1) Homo sapiens

Symbol: CV71995
Name: GRCh38/hg38 5p15.33(chr5:49978-4014647)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051100]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051100]|See cases [RCV000051100]
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   IRX4-AS1   LINC01017   LINC01019   LINC01377   LINC01511   LINC02116   LINC02162   LPCAT1   LRRC14B   LSINCT5   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_000005.9:g.(?_50093)_(4014761_?)del
NC_000005.8:g.(?_103093)_(4067761_?)del
NC_000005.10:g.(?_49978)_(4014647_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38549,978 - 4,014,647CLINVAR
GRCh37550,093 - 4,014,761CLINVAR
Build 365103,093 - 4,067,761CLINVAR
Cytogenetic Map55p15.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618142
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.