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Variant : CV380833 (GRCh37/hg19 Xp22.2(chrX:11258243-14177713)x1) Homo sapiens

Symbol: CV380833
Name: GRCh37/hg19 Xp22.2(chrX:11258243-14177713)x1
Condition: See cases [RCV000448381]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AMELX   ARHGAP6   ATXN3L   EGFL6   FAM9C   FRMPD4   GEMIN8   GPM6B   MSL3   OFD1   PRPS2   RAB9A   TCEANC   TLR7   TLR8   TMSB4X   TRAPPC2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37X11,258,243 - 14,177,713CLINVAR
Cytogenetic MapXXp22.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12853089
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.