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Variant : CV227049 (NM_002336.2(LRP6):c.4082-2A>G) Homo sapiens

Symbol: CV227049
Name: NM_002336.2(LRP6):c.4082-2A>G
Condition: Tooth agenesis [RCV000210789]
Clinical Significance: likely pathogenic
Last Evaluated: 03/10/2016
Review Status: criteria provided, single submitter
Related Genes: LRP6  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: research
HGVS Name(s): NM_002336.2:c.4082-2A>G
NG_016168.1:g.144955A>G
NC_000012.12:g.12126923T>C
NC_000012.11:g.12279857T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381212,126,923 - 12,126,923CLINVAR
GRCh371212,279,857 - 12,279,857CLINVAR
Cytogenetic Map1212p13.2CLINVAR



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11075172
Created: 2016-05-10
Species: Homo sapiens
Last Modified: 2019-08-06
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.