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Variant : CV246326 (NM_000527.4(LDLR):c.1778del (p.Gly593fs)) Homo sapiens

Symbol: CV246326
Name: NM_000527.4(LDLR):c.1778del (p.Gly593fs)
Condition: Familial hypercholesterolemia [RCV000237597]
Clinical Significance: pathogenic
Last Evaluated: 12/16/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing|literature only
HGVS Name(s): NC_000019.9:g.11227607del
LRG_274p1:p.Gly593fs
NP_001182729.1:p.Gly425fs
NP_001182732.1:p.Gly466fs
NP_001182728.1:p.Gly552fs
NP_000518.1:p.Gly593fs
NP_001182727.1:p.Gly593fs
p.Gly593Alafs*72
c.1778delG
NM_000527.4:c.1778del
LRG_274t1:c.1778del
LRG_274:g.32551del
NG_009060.1:g.32551del
NM_001195800.2:c.1274del
NM_001195803.2:c.1397del
NM_001195798.2:c.1778del
NC_000019.10:g.11116931del
NM_001195799.2:c.1655del
NC_000019.9:g.11227607delG
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,931 - 11,116,931CLINVAR
GRCh371911,227,607 - 11,227,607CLINVAR
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: 11524595
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.