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Variant : CV158652 (GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1) Homo sapiens

Symbol: CV158652
Name: GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1
Condition: See cases [RCV000137963]
Clinical Significance: pathogenic
Last Evaluated: 11/16/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD17B   ALDH1A1   ANXA1   APBA1   BANCR   C9orf135   C9orf135-DT   C9orf40   C9orf57   C9orf85   CARNMT1   CARNMT1-AS1   CEMIP2   CEP78   FAM122A   FAM189A2   FOXB2   FRMD3   FXN   GCNT1   GDA   GNA14   GNA14-AS1   GNAQ   IDNK   KLF9   LINC01474   LINC01504   LINC01506   LINC01507   MAMDC2   MAMDC2-AS1   MIR204   NMRK1   OSTF1   PCA3   PCSK5   PGM5   PIP5K1B   PRKACG   PRUNE2   PSAT1   PTAR1   RASEF   RFK   RORB   RORB-AS1   SMC5   SMC5-AS1   SPATA31D1   SPATA31D3   SPATA31D4   TJP2   TLE1   TLE4   TMC1   TMEM252   TMEM252-DT   TRPM3   TRPM6   UBQLN1   VPS13A   VPS13A-AS1   ZFAND5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_68499530)_(83670227_?)del
NC_000009.11:g.(?_71130848)_(86285142_?)del
NC_000009.10:g.(?_70304266)_(85474962_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38968,499,530 - 83,670,227CLINVAR
GRCh37971,130,848 - 86,285,142 (+)CLINVAR
Build 36970,304,266 - 85,474,962CLINVAR
Cytogenetic Map99q21.11-21.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485512
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.