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Variant : CV72604 (GRCh38/hg38 Xq28(chrX:153667032-153817949)x0) Homo sapiens

Symbol: CV72604
Name: GRCh38/hg38 Xq28(chrX:153667032-153817949)x0
Condition: Macrotia [RCV000051751]|See cases [RCV000051751]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCD1   BCAP31   IDH3G   PDZD4   PLXNB3   PNCK   SLC6A8   SRPK3   SSR4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153667032)_(153817949_?)del
NW_003871103.3:g.(?_1101015)_(1251932_?)del
NC_000023.9:g.(?_152585681)_(152736598_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,667,032 - 153,817,949CLINVAR
Build 36X152,585,681 - 152,736,598CLINVAR
Cytogenetic MapXXq28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618764
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
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.