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Variant : CV74110 (GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1) Homo sapiens

Symbol: CV74110
Name: GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1
Condition: See cases [RCV000053357]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC009078.2   AC138627.1   ADAMTS18   ADAT1   ARLNC1   ATMIN   BCAR1   BCO1   C16orf46   CDYL2   CENPN   CFDP1   CHST5   CHST6   CLEC18B   CLEC3A   CMC2   CMIP   CNTNAP4   CPHXL   CTRB1   CTRB2   DUXB   DYNLRB2   FA2H   GABARAPL2   GAN   GCSH   GLG1   HCCAT5   HSD17B2   KARS1   LDHD   LINC01227   LINC01229   LINC01568   LINC02125   LINC02131   MAF   MAFTRR   MIR4719   MIR4720   MIR6504   MIR7854   MLKL   MON1B   MPHOSPH6   NPIPB15   NUDT7   PKD1L2   PLCG2   PSMD7   RFWD3   SDR42E1   SYCE1L   TERF2IP   TMEM170A   TMEM231   TRK-TTT1-1   VAT1L   WDR59   WWOX   WWOX-AS1   ZFHX3   ZFP1   ZNRF1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_73049467)_(82576326_?)del
NC_000016.9:g.(?_73083366)_(82609931_?)del
NC_000016.8:g.(?_71640867)_(81167432_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381673,049,467 - 82,576,326CLINVAR
GRCh371673,083,366 - 82,609,931CLINVAR
Build 361671,640,867 - 81,167,432CLINVAR
Cytogenetic Map1616q22.3-23.3CLINVAR
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: 8620294
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-30
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.