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Variant : CV246365 (NM_000527.4(LDLR):c.1844A>T (p.Glu615Val)) Homo sapiens

Symbol: CV246365
Name: NM_000527.4(LDLR):c.1844A>T (p.Glu615Val)
Condition: Familial hypercholesterolemia [RCV000237251]
Clinical Significance: likely pathogenic
Last Evaluated: 12/16/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only
HGVS Name(s): LRG_274t1:c.1844A>T
NM_000527.4:c.1844A>T
LRG_274:g.32617A>T
NG_009060.1:g.32617A>T
NC_000019.10:g.11116997A>T
NC_000019.9:g.11227673A>T
c.1844A>T
LRG_274p1:p.Glu615Val
NP_000518.1:p.Glu615Val
NM_001195800.2:c.1340A>T
NM_001195803.2:c.1463A>T
NM_001195799.2:c.1721A>T
NM_000527.4:c.1844A>T
NM_001195798.2:c.1844A>T
NP_001182729.1:p.Glu447Val
NP_001182732.1:p.Glu488Val
NP_001182728.1:p.Glu574Val
NP_001182727.1:p.Glu615Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,997 - 11,116,997CLINVAR
GRCh371911,227,673 - 11,227,673CLINVAR
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: 11524260
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.