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Variant : CV647624 (NM_000527.4(LDLR):c.1459_1472dup (p.Asp492fs)) Homo sapiens

Symbol: CV647624
Name: NM_000527.4(LDLR):c.1459_1472dup (p.Asp492fs)
Condition: Familial hypercholesterolemias [RCV000796689]
Clinical Significance: pathogenic
Last Evaluated: 09/06/2018
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_000527.4:c.1459_1472dupAACATCTACTGGAC
LRG_274t1:c.1459_1472dup
NM_001195803.2:c.1078_1091dup
NM_001195799.2:c.1336_1349dup
NM_000527.4:c.1459_1472dup
NM_001195798.2:c.1459_1472dup
NM_001195800.2:c.955_968dup
LRG_274:g.29255_29268dup
NG_009060.1:g.29255_29268dup
NC_000019.10:g.11113635_11113648dup
NC_000019.9:g.11224311_11224324dup
LRG_274p1:p.Asp492fs
NP_001182729.1:p.Asp324fs
NP_001182732.1:p.Asp365fs
NP_001182728.1:p.Asp451fs
NP_000518.1:p.Asp492fs
NP_001182727.1:p.Asp492fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,113,635 - 11,113,648CLINVAR
GRCh371911,224,309 - 11,224,310CLINVAR
Cytogenetic Map1919p13.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14720546
Created: 2019-09-06
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.