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Variant : CV74274 (GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3) Homo sapiens

Symbol: CV74274
Name: GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3
Condition: Corpus callosum agenesis [RCV000053531]|See cases [RCV000053531]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCB5   AGR2   AGR3   AHR   ANKMY2   BZW2   C7orf31   CCDC126   CDCA7L   CRPPA   CRPPA-AS1   CYCS   DNAH11   FAM126A   FAM221A   FERD3L   GPNMB   GSDME   HDAC9   HDAC9-AS1   IGF2BP3   IL6   IL6-AS1   ITGB8   KLHL7   KLHL7-DT   LINC01162   LRRC72   MACC1   MACC1-AS1   MALSU1   MIR1183   MIR1302-6   MIR148A   MIR3146   MPP6   NFE2L3   NPVF   NPY   NUP42   OSBPL3   PRPS1L1   RAPGEF5   SNHG26   SNORD65C   SNORD93   SNX13   SOSTDC1   SP4   SP8   STEAP1B   STK31   TMEM196   TOMM7   TRA2A   TSPAN13   TWIST1   TWISTNB  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_16234212)_(26167278_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38716,234,212 - 26,167,278CLINVAR
GRCh37716,273,837 - 26,206,898CLINVAR
Build 36716,240,362 - 26,173,423CLINVAR
Cytogenetic Map77p21.2-15.2CLINVAR
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
RGD Object Information
RGD ID: 8620460
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


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