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Variant : CV74171 (GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1) Homo sapiens

Symbol: CV74171
Name: GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1
Condition: Nonsyndromic microcephaly [RCV000053419]|See cases [RCV000053419]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAMTS16   ADCY2   AHRR   ANKH   ANKRD33B   ATPSCKMT   BASP1   BASP1-AS1   BRD9   C5orf38   C5orf49   CCDC127   CCT5   CEP72   CLPTM1L   CMBL   CTNND2   DAP   DNAH5   EXOC3   EXOC3-AS1   FASTKD3   FBXL7   H3Y1   H3Y2   ICE1   IRX1   IRX2   IRX4   IRX4-AS1   LINC01017   LINC01018   LINC01019   LINC01020   LINC01194   LINC01377   LINC01511   LINC02063   LINC02102   LINC02111   LINC02112   LINC02114   LINC02116   LINC02121   LINC02123   LINC02142   LINC02145   LINC02149   LINC02150   LINC02162   LINC02199   LINC02212   LINC02213   LINC02217   LINC02218   LINC02220   LINC02221   LINC02223   LINC02226   LINC02236   LPCAT1   LRRC14B   LSINCT5   MARCHF11   MARCHF6   MED10   MIR10397   MIR10522   MIR4277   MIR4278   MIR4456   MIR4457   MIR4458   MIR4458HG   MIR4635   MIR4636   MIR4637   MIR6075   MIR6131   MIR887   MRPL36   MTRR   MYO10   NDUFS6   NKD2   NSUN2   OTULIN   OTULINL   PDCD6   PLEKHG4B   RETREG1   ROPN1L   ROPN1L-AS1   SDHA   SEMA5A   SEMA5A-AS1   SLC12A7   SLC6A18   SLC6A19   SLC6A3   SLC9A3   SLC9A3-AS1   SNHG18   SNORD123   SNORD141B   SNORD170   SRD5A1   TAS2R1   TENT4A   TERT   TPPP   TRIO   TRIP13   UBE2QL1   ZDHHC11   ZDHHC11B   ZNF622  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_22419)_(19280892_?)del
NC_000005.9:g.(?_22419)_(19281001_?)del
NC_000005.8:g.(?_75419)_(19316758_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38522,419 - 19,280,892CLINVAR
GRCh37522,419 - 19,281,001CLINVAR
Build 36575,419 - 19,316,758CLINVAR
Cytogenetic Map55p15.33-14.3CLINVAR
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
 
CRRD Object Information
CRRD ID: 8620356
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.