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Variant : CV73000 (GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1) Homo sapiens

Symbol: CV73000
Name: GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1
Condition: Nonsyndromic microcephaly [RCV000052159]|See cases [RCV000052159]
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   FOXC1   FOXCUT   FOXF2   FOXQ1   GMDS   GMDS-DT   HUS1B   IRF4   KU-MEL-3   LINC00266-3   LINC01011   LINC01394   LINC01600   LINC01622   LINC02521   LINC02525   LINC02533   LOC285766   MIR4645   MIR6720   MYLK4   NQO2   NQO2-AS1   PRPF4B   PSMG4   PXDC1   RIPK1   SERPINB1   SERPINB6   SERPINB9   SLC22A23   TUBB2A   TUBB2B   WRNIP1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_107682)_(4978781_?)del
Human AssemblyChrPosition (strand)Source
GRCh386107,682 - 4,978,781CLINVAR
GRCh376107,682 - 4,979,015CLINVAR
Build 36652,682 - 4,924,014CLINVAR
Cytogenetic Map66p25.3-25.1CLINVAR
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: 8619163
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.