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Variant : CV73429 (GRCh38/hg38 6q26(chr6:162233059-162579288)x1) Homo sapiens

Symbol: CV73429
Name: GRCh38/hg38 6q26(chr6:162233059-162579288)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052623]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052623]|See cases [RCV000052623]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: PRKN  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_162233059)_(162579288_?)del
NC_000006.11:g.(?_162654091)_(163000320_?)del
NC_000006.10:g.(?_162574081)_(162920310_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh386162,233,059 - 162,579,288CLINVAR
GRCh376162,654,091 - 163,000,320CLINVAR
Build 366162,574,081 - 162,920,310CLINVAR
Cytogenetic Map66q26CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619599
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.