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Variant : CV245365 (NM_000527.4(LDLR):c.81C>T (p.Cys27=)) Homo sapiens

Symbol: CV245365
Name: NM_000527.4(LDLR):c.81C>T (p.Cys27=)
Condition: Familial hypercholesterolemia [RCV000238104]|not specified [RCV000248705]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 02/08/2019
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): LRG_274t1:c.81C>T
NM_000527.4:c.81C>T
LRG_274:g.15856C>T
NG_009060.1:g.15856C>T
NC_000019.10:g.11100236C>T
NC_000019.9:g.11210912C>T
c.81C>T
LRG_274p1:p.Cys27=
NP_000518.1:p.Cys27=
NM_001195799.2:c.81C>T
NP_001182732.1:p.Cys27=
NP_001182729.1:p.Cys27=
NM_001195800.2:c.81C>T
NM_001195803.2:c.81C>T
NP_001182727.1:p.Cys27=
NP_001182728.1:p.Cys27=
NM_000527.4:c.81C>T
NM_001195798.2:c.81C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,100,236 - 11,100,236CLINVAR
GRCh371911,210,912 - 11,210,912CLINVAR
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: 11525085
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.