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Variant : CV246228 (NM_000527.4(LDLR):c.1587_1591del (p.Phe530fs)) Homo sapiens

Symbol: CV246228
Name: NM_000527.4(LDLR):c.1587_1591del (p.Phe530fs)
Condition: Familial hypercholesterolemia [RCV000238531]
Clinical Significance: pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): c.1587_1591del
LRG_274t1:c.1587_1591del
LRG_274:g.31714_31718del
NM_001195803.2:c.1206_1210del
NM_001195799.2:c.1464_1468del
NM_000527.4:c.1587_1591del
NM_001195798.2:c.1587_1591del
NG_009060.1:g.31714_31718del
NC_000019.10:g.11116094_11116098del
LRG_274p1:p.Phe530fs
NP_001182729.1:p.Phe362fs
NP_001182732.1:p.Phe403fs
NP_001182728.1:p.Phe489fs
NP_000518.1:p.Phe530fs
NM_001195800.2:c.1083_1087del
NP_001182727.1:p.Phe530fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,094 - 11,116,098CLINVAR
GRCh371911,226,770 - 11,226,774CLINVAR
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: 11525496
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.