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Variant : CV73002 (GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1) Homo sapiens

Symbol: CV73002
Name: GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1
Condition: Abnormal facial shape [RCV000052161]|See cases [RCV000052161]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BPHL   C6orf201   CDYL   CDYL-AS1   DUSP22   ECI2   ECI2-DT   EXOC2   FAM217A   FAM50B   FARS2   FOXC1   FOXCUT   FOXF2   FOXQ1   GMDS   GMDS-DT   HUS1B   IRF4   KU-MEL-3   LINC01011   LINC01394   LINC01600   LINC01622   LINC02521   LINC02525   LINC02533   LOC285766   LYRM4   LYRM4-AS1   MIR3691   MIR4645   MIR6720   MYLK4   NQO2   NQO2-AS1   PPP1R3G   PRPF4B   PSMG4   PXDC1   RIPK1   RPP40   SERPINB1   SERPINB6   SERPINB9   SLC22A23   TUBB2A   TUBB2B   WRNIP1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_163083)_(5875402_?)del
NC_000006.11:g.(?_163083)_(5875635_?)del
NC_000006.10:g.(?_108083)_(5820634_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh386163,083 - 5,875,402CLINVAR
GRCh376163,083 - 5,875,635CLINVAR
Build 366108,083 - 5,820,634CLINVAR
Cytogenetic Map66p25.3-25.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619165
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.