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Variant : CV246475 (NM_000527.4(LDLR):c.2033_2044del (p.Gln678_Cys681del)) Homo sapiens

Symbol: CV246475
Name: NM_000527.4(LDLR):c.2033_2044del (p.Gln678_Cys681del)
Condition: Familial hypercholesterolemia [RCV000238246]
Clinical Significance: likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 03/25/2016
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion|inframe_variant|intron variant
Evidence: literature only|research
HGVS Name(s): c.2033_2044del
LRG_274p1:p.Gln678_Cys681del
NP_000518.1:p.Gln678_Cys681del
NP_001182728.1:p.Gln637_Cys640del
NP_001182727.1:p.Gln678_Cys681del
NP_001182729.1:p.Gln510_Cys513del
LRG_274t1:c.2033_2044del
LRG_274:g.36035_36046del
NM_001195800.2:c.1529_1540del
NM_001195803.2:c.1606+182_1606+193del
NM_001195799.2:c.1910_1921del
NM_001195798.2:c.2033_2044del
NG_009060.1:g.36035_36046del
NC_000019.10:g.11120415_11120426del
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,120,415 - 11,120,426CLINVAR
GRCh371911,231,091 - 11,231,102CLINVAR
Cytogenetic Map1919p13.2CLINVAR
Trait Synonyms: Fredrickson type IIa hyperlipoproteinemia; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; HYPERCHOLESTEROLEMIA, FAMILIAL, 1; HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF; HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL; Hyperlipoproteinemia Type II; Hyperlipoproteinemia Type IIa; LDL RECEPTOR DISORDER
Prevalence: 1-9 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11525223
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.