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Variant : CV74529 (GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1) Homo sapiens

Symbol: CV74529
Name: GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1
Condition: Global developmental delay [RCV000053805]|See cases [RCV000053805]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AKIRIN1   BMP8A   BMP8B   CAP1   CITED4   COL9A2   CTPS1   EDN2   EXO5   FOXJ3   FOXO6   FOXO6-AS1   GJA9   GUCA2A   GUCA2B   HEYL   HIVEP3   HPCAL4   KCNQ4   KIAA0754   LINC01343   LINC01685   MACF1   MFSD2A   MIR30C1   MIR30E   MIR3659HG   MYCBP   MYCL   MYCL-AS1   NDUFS5   NFYC   NFYC-AS1   NT5C1A   OXCT2   PABPC4   PABPC4-AS1   PPIE   PPT1   RHBDL2   RIMS3   RLF   RRAGC   SCMH1   SLFNL1   SLFNL1-AS1   SMAP2   SNORA55   TMCO2   TRIT1   ZFP69   ZFP69B   ZMPSTE24   ZNF684  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_38108665)_(42327551_?)del
NC_000001.10:g.(?_38574337)_(42793222_?)del
NC_000001.9:g.(?_38346924)_(42565809_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38138,108,665 - 42,327,551CLINVAR
GRCh37138,574,337 - 42,793,222CLINVAR
Build 36138,346,924 - 42,565,809CLINVAR
Cytogenetic Map11p34.3-34.2CLINVAR
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
 
CRRD Object Information
CRRD ID: 8620720
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.