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Variant : CV72745 (GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3) Homo sapiens

Symbol: CV72745
Name: GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3
Condition: Nonsyndromic microcephaly [RCV000051896]|See cases [RCV000051896]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADTRP   BLOC1S5   BLOC1S5-TXNDC5   BMP6   BPHL   C6orf201   C6orf52   CAGE1   CDYL   CDYL-AS1   DSP   ECI2   ECI2-DT   EDN1   EEF1E1   EEF1E1-BLOC1S5   ELOVL2   ELOVL2-AS1   ERVFRD-1   EXOC2   F13A1   FAM217A   FAM50B   FARS2   FOXC1   FOXCUT   FOXF2   FOXQ1   GCM2   GCNT2   GFOD1   GMDS   GMDS-DT   HIVEP1   HULC   HUS1B   IRF4   KU-MEL-3   LINC00518   LINC01011   LINC01394   LINC01600   LINC01622   LINC02521   LINC02522   LINC02525   LINC02530   LINC02533   LY86   LY86-AS1   LYRM4   LYRM4-AS1   MAK   MIR3691   MIR4645   MIR5683   MIR5689   MIR5689HG   MIR6720   MIR7853   MYLK4   NEDD9   NQO2   NQO2-AS1   NRN1   OFCC1   PAK1IP1   PHACTR1   PPP1R3G   PRPF4B   PSMG4   PXDC1   RIOK1   RIPK1   RPP40   RREB1   SCARNA27   SERPINB1   SERPINB6   SERPINB9   SLC22A23   SLC35B3   SMIM13   SNRNP48   SSR1   SYCP2L   TBC1D7   TFAP2A   TFAP2A-AS1   TFAP2A-AS2   TMEM14B   TMEM14C   TMEM170B   TUBB2A   TUBB2B   TXNDC5   WRNIP1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_389423)_(13474956_?)dup
Human AssemblyChrPosition (strand)Source
GRCh386389,423 - 13,474,956CLINVAR
GRCh376389,423 - 13,475,188CLINVAR
Build 366334,423 - 13,583,167CLINVAR
Cytogenetic Map66p25.3-23CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8618906
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE


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