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Variant : CV163692 (GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1) Homo sapiens

Symbol: CV163692
Name: GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1
Condition: See cases [RCV000142138]
Clinical Significance: likely pathogenic
Last Evaluated: 10/17/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACTE1P   ANO1   C11orf24   CCND1   CHKA   CPT1A   CTTN   DHCR7   FADD   FGF19   FGF3   FGF4   GAL   IGHMBP2   KMT5B   KRTAP5-10   KRTAP5-11   KRTAP5-7   KRTAP5-8   KRTAP5-9   LINC01488   LINC02584   LINC02747   LINC02753   LRP5   LTO1   MIR3164   MIR3664   MIR4691   MIR548K   MIR6753   MIR6754   MIR7113   MRGPRD   MRGPRF   MRGPRF-AS1   MRPL21   MYEOV   NADSYN1   NDUFS8   PPFIA1   PPP6R3   SHANK2   SHANK2-AS1   SHANK2-AS3   SMIM38   TCIRG1   TESMIN   TPCN2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_68031693)_(71593495_?)del
NC_000011.9:g.(?_67799160)_(71304541_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381168,031,693 - 71,593,495CLINVAR
GRCh371167,799,160 - 71,304,541CLINVAR
Build 361167,555,736 - 70,982,189CLINVAR
Cytogenetic Map1111q13.2-13.4CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489657
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-17
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.