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Variant : CV72181 (GRCh38/hg38 12q21.31(chr12:80266605-85253555)x1) Homo sapiens

Symbol: CV72181
Name: GRCh38/hg38 12q21.31(chr12:80266605-85253555)x1
Condition: Muscular hypotonia [RCV000051315]|See cases [RCV000051315]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACSS3   CCDC59   LIN7A   LINC01490   LINC02426   LRRIQ1   METTL25   MIR4699   MIR617   MIR618   MYF5   MYF6   OTOGL   PPFIA2   PPFIA2-AS1   PTPRQ   SLC6A15   TMTC2   TSPAN19  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_80266605)_(85253555_?)del
NC_000012.11:g.(?_80660385)_(85647333_?)del
NC_000012.10:g.(?_79184516)_(84171464_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381280,266,605 - 85,253,555CLINVAR
GRCh371280,660,385 - 85,647,333CLINVAR
Build 361279,184,516 - 84,171,464CLINVAR
Cytogenetic Map1212q21.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618340
Created: 2014-05-13
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.