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Variant : CV246241 (NM_000527.4(LDLR):c.1617C>T (p.Pro539=)) Homo sapiens

Symbol: CV246241
Name: NM_000527.4(LDLR):c.1617C>T (p.Pro539=)
Condition: Familial hypercholesterolemia [RCV000238018]|not provided [RCV000589450]|not specified [RCV000243017]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 07/30/2018
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|research
HGVS Name(s): NM_000527.4:c.1617C>T
LRG_274t1:c.1617C>T
LRG_274:g.31744C>T
NG_009060.1:g.31744C>T
NC_000019.10:g.11116124C>T
NC_000019.9:g.11226800C>T
c.1617C>T
LRG_274p1:p.Pro539=
NP_000518.1:p.Pro539=
NM_001195800.2:c.1113C>T
NM_001195803.2:c.1236C>T
NM_001195799.2:c.1494C>T
NM_001195798.2:c.1617C>T
NP_001182729.1:p.Pro371=
NP_001182732.1:p.Pro412=
NP_001182727.1:p.Pro539=
NP_001182728.1:p.Pro498=
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,124 - 11,116,124CLINVAR
GRCh371911,226,800 - 11,226,800CLINVAR
Cytogenetic Map1919p13.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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: 11525002
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.