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Variant : CV245863 (NM_000527.4(LDLR):c.932A>C (p.Lys311Thr)) Homo sapiens

Symbol: CV245863
Name: NM_000527.4(LDLR):c.932A>C (p.Lys311Thr)
Condition: Familial hypercholesterolemia [RCV000237873]
Clinical Significance: likely pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): LRG_274t1:c.932A>C
NM_000527.4:c.932A>C
LRG_274:g.23126A>C
NG_009060.1:g.23126A>C
NC_000019.10:g.11107506A>C
NC_000019.9:g.11218182A>C
c.932A>C
LRG_274p1:p.Lys311Thr
NP_000518.1:p.Lys311Thr
NM_001195803.2:c.551A>C
NM_001195799.2:c.809A>C
NM_001195798.2:c.932A>C
NP_001182729.1:p.Lys143Thr
NP_001182732.1:p.Lys184Thr
NP_001182728.1:p.Lys270Thr
NP_001182727.1:p.Lys311Thr
NM_001195800.2:c.428A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,107,506 - 11,107,506CLINVAR
GRCh371911,218,182 - 11,218,182CLINVAR
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: 11524863
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.