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Variant : CV18741 (NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu)) Homo sapiens

Symbol: CV18741
Name: NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu)
Condition: Familial hypercholesterolemia - homozygous [RCV000844731]|Familial hypercholesterolemia [RCV000003891]|Familial hypercholesterolemias [RCV000775085]|not provided [RCV000162007]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other|not provided
Last Evaluated: 10/31/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided|no assertion provided|not classified by submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001536)
Source: CLINVAR
Molecular Consequence: intron|intron variant|missense|missense variant
Evidence: clinical testing|in vitro|literature only
HGVS Name(s): LRG_274t1:c.2054C>T
NM_000527.4:c.2054C>T
LRG_274:g.36056C>T
NG_009060.1:g.36056C>T
NC_000019.10:g.11120436C>T
NC_000019.9:g.11231112C>T
LRG_274p1:p.Pro685Leu
NP_000518.1:p.Pro685Leu
c.2054C>T
P01130:p.Pro685Leu
NP_000518.1:p.P685L
NM_001195800.2:c.1550C>T
NM_001195803.2:c.1606+203C>T
NM_000527.4:c.2054C>T
NM_001195798.2:c.2054C>T
NC_000019.9:g.11231112C>T
NP_000518.1:p.P685L
NP_001182729.1:p.Pro517Leu
NP_001182728.1:p.Pro644Leu
NP_001182727.1:p.Pro685Leu
NM_001195799.2:c.1931C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,120,436 - 11,120,436CLINVAR
GRCh371911,231,112 - 11,231,112CLINVAR
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 - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8557592
Created: 2014-05-13
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.