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Variant : CV264516 (NM_002336.2(LRP6):c.2953C>T (p.Arg985Ter)) Homo sapiens

Symbol: CV264516
Name: NM_002336.2(LRP6):c.2953C>T (p.Arg985Ter)
Condition: not provided [RCV000265819]
Clinical Significance: pathogenic
Last Evaluated: 04/11/2016
Review Status: criteria provided, single submitter
Related Genes: LRP6  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_002336.2:c.2953C>T
NG_016168.1:g.121001C>T
NC_000012.12:g.12150877G>A
NC_000012.11:g.12303811G>A
NP_002327.2:p.Arg985Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381212,150,877 - 12,150,877CLINVAR
GRCh371212,303,811 - 12,303,811CLINVAR
Cytogenetic Map1212p13.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11577716
Created: 2017-01-11
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.