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Variant : CV158409 (GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3) Homo sapiens

Symbol: CV158409
Name: GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3
Condition: See cases [RCV000137726]
Clinical Significance: pathogenic
Last Evaluated: 10/07/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ASF1A   CENPW   CEP85L   CLVS2   FABP7   FAM184A   GJA1   HDDC2   HEY2   HINT3   HSF2   LINC02523   MAN1A1   MCM9   MIR3144   MIR548B   MIR588   NCOA7   NCOA7-AS1   NKAIN2   NUS1   PKIB   PLN   RNF217   RNF217-AS1   SERINC1   SLC35F1   SMPDL3A   TBC1D32   TPD52L1   TRDN   TRDN-AS1   TRE-CTC1-7   TRMT11  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_117607147)_(126699980_?)dup
NC_000006.11:g.(?_117928310)_(127021125_?)dup
NC_000006.10:g.(?_118035003)_(127062818_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh386117,607,147 - 126,699,980CLINVAR
GRCh376117,928,310 - 127,021,125CLINVAR
Build 366118,035,003 - 127,062,818CLINVAR
Cytogenetic Map66q22.1-22.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485278
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.