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Variant : CV246366 (NM_000527.4(LDLR):c.1845G>A (p.Glu615=)) Homo sapiens

Symbol: CV246366
Name: NM_000527.4(LDLR):c.1845G>A (p.Glu615=)
Condition: Familial hypercholesterolemia [RCV000237596]
Clinical Significance: likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 10/21/2017
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_001195800.2:c.1341G>A
NM_001195803.2:c.1464G>A
NM_001195799.2:c.1722G>A
NP_001182732.1:p.Glu488=
NP_001182728.1:p.Glu574=
LRG_274t1:c.1845G>A
LRG_274:g.32618G>A
NG_009060.1:g.32618G>A
NC_000019.10:g.11116998G>A
NC_000019.9:g.11227674G>A
c.1845G>A
LRG_274p1:p.Glu615=
NP_000518.1:p.Glu615=
NM_001195798.2:c.1845G>A
NP_001182729.1:p.Glu447=
NP_001182727.1:p.Glu615=
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,998 - 11,116,998CLINVAR
GRCh371911,227,674 - 11,227,674CLINVAR
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: 11524594
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.