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Variant : CV434309 (NM_000527.4(LDLR):c.1743A>T (p.Lys581Asn)) Homo sapiens

Symbol: CV434309
Name: NM_000527.4(LDLR):c.1743A>T (p.Lys581Asn)
Condition: Familial hypercholesterolemia [RCV000508854]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): LRG_274t1:c.1743A>T
NM_000527.4:c.1743A>T
LRG_274:g.32516A>T
NG_009060.1:g.32516A>T
NC_000019.10:g.11116896A>T
NC_000019.9:g.11227572A>T
LRG_274p1:p.Lys581Asn
NP_000518.1:p.Lys581Asn
NP_001182727.1:p.Lys581Asn
NP_001182729.1:p.Lys413Asn
NM_001195800.2:c.1239A>T
NM_001195803.2:c.1362A>T
NM_000527.4:c.1743A>T
NM_001195798.2:c.1743A>T
NP_001182732.1:p.Lys454Asn
NP_001182728.1:p.Lys540Asn
NM_001195799.2:c.1620A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,896 - 11,116,896CLINVAR
GRCh371911,227,572 - 11,227,572CLINVAR
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



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13437476
Created: 2017-10-10
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.