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Variant : CV556037 (GRCh37/hg19 Xq12-13.1(chrX:67637833-68628411)x3) Homo sapiens

Symbol: CV556037
Name: GRCh37/hg19 Xq12-13.1(chrX:67637833-68628411)x3
Condition: not provided [RCV000684342]
Clinical Significance: likely pathogenic
Last Evaluated: 01/09/2018
Review Status: no assertion criteria provided
Related Genes: EFNB1   OPHN1   PJA1   STARD8   YIPF6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X67,637,833 - 68,628,411CLINVAR
Cytogenetic MapXXq12-13.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13798513
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.