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Variant : CV71591 (GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1) Homo sapiens

Symbol: CV71591
Name: GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1
Condition: See cases [RCV000050513]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC104024.1   ADORA2B   ALKBH5   ATPAF2   CCDC144A   CENPV   COPS3   DRC3   DRG2   EVPLL   FAM106A   FAM106C   FBXW10   FLCN   FLII   FOXO3B   GID4   LGALS9C   LINC02076   LINC02087   LINC02090   LLGL1   LRRC75A   MED9   MIEF2   MIR1288   MIR33B   MIR6777   MIR6778   MPRIP   MYO15A   NCOR1   NT5M   PEMT   PIGL   PLD6   RAI1   RAI1-AS1   RASD1   SHMT1   SMCR2   SMCR5   SMCR8   SNHG29   SNORD163   SNORD49A   SNORD49B   SNORD65   SREBF1   TBC1D28   TNFRSF13B   TOM1L2   TOP3A   TRIM16L   TRPV2   TTC19   UBB   ZNF287   ZNF624   ZSWIM7  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_15776915)_(18771753_?)del
NC_000017.10:g.(?_15680229)_(18675066_?)del
NC_000017.9:g.(?_15620954)_(18615791_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381715,776,915 - 18,771,753CLINVAR
GRCh371715,680,229 - 18,675,066CLINVAR
Build 361715,620,954 - 18,615,791CLINVAR
Cytogenetic Map1717p12-11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617671
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.