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Variant : CV181247 (NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser)) Homo sapiens

Symbol: CV181247
Name: NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser)
Condition: Familial hypercholesterolemia - homozygous [RCV000844735]|Familial hypercholesterolemia [RCV000211596]|Familial hypercholesterolemias [RCV000587327]|not provided [RCV000161977]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
Last Evaluated: 03/11/2019
Review Status: 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:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|in vitro
HGVS Name(s): LRG_274t1:c.1027G>A
NM_000527.4:c.1027G>A
LRG_274:g.26358G>A
NG_009060.1:g.26358G>A
NC_000019.10:g.11110738G>A
NC_000019.9:g.11221414G>A
LRG_274p1:p.Gly343Ser
NP_000518.1:p.Gly343Ser
c.1027G>A
P01130:p.Gly343Ser
NP_000518.1:p.G343S
NP_001182728.1:p.Gly302Ser
NP_001182727.1:p.Gly343Ser
NP_001182729.1:p.Gly175Ser
NP_001182732.1:p.Gly216Ser
NM_000527.4:c.1027G>A
NM_001195798.2:c.1027G>A
NM_001195800.2:c.523G>A
NM_001195803.2:c.646G>A
NM_001195799.2:c.904G>A
NP_000518.1:p.G343S
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,110,738 - 11,110,738CLINVAR
GRCh371911,221,414 - 11,221,414CLINVAR
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: 9832187
Created: 2015-03-10
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.