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Variant : CV74210 (GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1) Homo sapiens

Symbol: CV74210
Name: GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1
Condition: Global developmental delay [RCV000053458]|Short stature [RCV000053459]|See cases [RCV000053458]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADCYAP1   AFG3L2   AKAIN1   ANKRD12   ANKRD30B   ANKRD62   APCDD1   ARHGAP28   C18orf15   C18orf61   CEP192   CEP76   CETN1   CHMP1B   CIDEA   CLUL1   COLEC12   DLGAP1   DLGAP1-AS1   DLGAP1-AS2   DLGAP1-AS3   DLGAP1-AS4   DLGAP1-AS5   EMILIN2   ENOSF1   EPB41L3   FAM210A   GACAT2   GAPLINC   GNAL   IMPA2   L3MBTL4   L3MBTL4-AS1   LAMA1   LDLRAD4   LDLRAD4-AS1   LINC00470   LINC00526   LINC00667   LINC00668   LINC01254   LINC01255   LINC01387   LINC01443   LINC01444   LINC01882   LINC01887   LINC01892   LINC01895   LINC01904   LINC01906   LINC01925   LINC01928   LPIN2   LRRC30   MC2R   MC5R   METTL4   MIR3156-2   MIR3976   MIR3976HG   MIR4317   MIR4526   MIR5190   MIR6718   MIR6788   MIR7153   MPPE1   MTCL1   MYL12A   MYL12B   MYOM1   NAPG   NDC80   NDUFV2   NDUFV2-AS1   PIEZO2   POTEC   PPP4R1   PPP4R1-AS1   PRELID3A   PSMG2   PTPN2   PTPRM   RAB12   RAB31   RALBP1   RNMT   SEH1L   SLC35G4   SMCHD1   SPIRE1   TGIF1   THOC1   TMEM200C   TUBB6   TWSG1   TXNDC2   TYMS   TYMSOS   USP14   VAPA   YES1   ZBTB14   ZNF519  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.(?_131700)_(15121055_?)del
Human AssemblyChrPosition (strand)Source
GRCh3818131,700 - 15,121,055CLINVAR
GRCh3718131,700 - 15,121,054CLINVAR
Build 3618121,700 - 15,111,054CLINVAR
Cytogenetic Map1818p11.32-11.21CLINVAR
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: 8620395
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


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