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Variant : CV73836 (GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1) Homo sapiens

Symbol: CV73836
Name: GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1
Condition: Macrocephaly [RCV000053063]|See cases [RCV000053063]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACOT9   APOO   ARX   CFAP47   CXorf21   CXorf58   CYBB   DCAF8L1   DCAF8L2   DDX53   DMD   DYNLT3   EIF2S3   FAM47A   FAM47B   FAM47C   FTHL17   FTHL18   GK   H2AP   IL1RAPL1   KLHL15   LANCL3   MAGEB1   MAGEB10   MAGEB16   MAGEB18   MAGEB2   MAGEB3   MAGEB4   MAGEB5   MAGEB6   MID1IP1   MID1IP1-AS1   MIR3915   MIR4666B   MIR548AJ2   MIR548F5   MIR6134   NR0B1   OTC   PCYT1B   PCYT1B-AS1   PDK3   POLA1   PPP4R3C   PRDX4   PRRG1   PTCHD1   PTCHD1-AS   RPGR   SAT1   SCARNA23   SRPX   SUPT20HL1   SUPT20HL2   SYTL5   TAB3   TAB3-AS1   TMEM47   TSPAN7   XK   ZFX   ZFX-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_22420237)_(38834728_?)del
NC_000023.10:g.(?_22438354)_(38693981_?)del
NC_000023.9:g.(?_22348275)_(38578925_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X22,420,237 - 38,834,728CLINVAR
GRCh37X22,438,354 - 38,693,981CLINVAR
Build 36X22,348,275 - 38,578,925CLINVAR
Cytogenetic MapXXp22.11-11.4CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620011
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.