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Variant : CV74561 (GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1) Homo sapiens

Symbol: CV74561
Name: GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1
Condition: See cases [RCV000053837]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ARTN   ATP6V0B   B4GALT2   C1orf210   C1orf50   CCDC24   CCDC30   CDC20   CFAP57   CITED4   CLDN19   CTPS1   DMAP1   DPH2   EBNA1BP2   EDN2   ELOVL1   ERI3   ERI3-IT1   ERMAP   EXO5   FAM183A   FOXJ3   FOXO6   FOXO6-AS1   GUCA2A   GUCA2B   HIVEP3   HYI   IPO13   KCNQ4   KDM4A   KDM4A-AS1   KLF17   KLF18   MED8   MIR30C1   MIR30E   MIR5584   MIR6079   MIR6733   MIR6734   MIR6735   MPL   NFYC   NFYC-AS1   P3H1   PPCS   PPIH   PTPRF   RIMKLA   RIMS3   RNF220   SCMH1   SLC2A1   SLC2A1-AS1   SLC6A9   SLFNL1   SLFNL1-AS1   SNORA110   ST3GAL3   ST3GAL3-AS1   SVBP   SZT2   SZT2-AS1   TIE1   TMEM125   TMEM269   TMEM269-DT   TMEM53   YBX1   ZFP69   ZFP69B   ZMYND12   ZNF684   ZNF691  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_40462415)_(44668040_?)del
NC_000001.10:g.(?_40928087)_(45133712_?)del
NC_000001.9:g.(?_40700674)_(44906299_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38140,462,415 - 44,668,040CLINVAR
GRCh37140,928,087 - 45,133,712CLINVAR
Build 36140,700,674 - 44,906,299CLINVAR
Cytogenetic Map11p34.2-34.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620752
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-21
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.