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Variant : CV434839 (NM_001195798.2(LDLR):c.987C>G (p.Cys329Trp)) Homo sapiens

Symbol: CV434839
Name: NM_001195798.2(LDLR):c.987C>G (p.Cys329Trp)
Condition: Familial hypercholesterolemia [RCV000509097]
Clinical Significance: likely pathogenic
Last Evaluated: 03/01/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NM_001195803.2:c.606C>G
NM_001195799.2:c.864C>G
NM_000527.4:c.987C>G
NM_001195798.2:c.987C>G
NP_001182729.1:p.Cys161Trp
NP_001182732.1:p.Cys202Trp
NP_001182728.1:p.Cys288Trp
NP_001182727.1:p.Cys329Trp
LRG_274t1:c.987C>G
NM_000527.4:c.987C>G
LRG_274:g.26318C>G
NG_009060.1:g.26318C>G
NC_000019.10:g.11110698C>G
NC_000019.9:g.11221374C>G
LRG_274p1:p.Cys329Trp
NP_000518.1:p.Cys329Trp
NM_001195800.2:c.483C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,110,698 - 11,110,698CLINVAR
GRCh371911,221,374 - 11,221,374CLINVAR
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
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13442638
Created: 2017-11-07
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.