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Variant : CV246006 (NM_000527.4(LDLR):c.1132C>T (p.Gln378Ter)) Homo sapiens

Symbol: CV246006
Name: NM_000527.4(LDLR):c.1132C>T (p.Gln378Ter)
Condition: Familial hypercholesterolemia [RCV000237214]
Clinical Significance: pathogenic
Last Evaluated: 03/25/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: literature only
HGVS Name(s): LRG_274t1:c.1132C>T
NM_000527.4:c.1132C>T
LRG_274:g.27205C>T
NG_009060.1:g.27205C>T
NC_000019.10:g.11111585C>T
NC_000019.9:g.11222261C>T
c.1132C>T
LRG_274p1:p.Gln378Ter
NP_000518.1:p.Gln378Ter
NM_001195799.2:c.1009C>T
NM_001195798.2:c.1132C>T
NM_001195800.2:c.628C>T
NM_001195803.2:c.751C>T
NP_001182729.1:p.Gln210Ter
NP_001182732.1:p.Gln251Ter
NP_001182728.1:p.Gln337Ter
NP_001182727.1:p.Gln378Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,111,585 - 11,111,585CLINVAR
GRCh371911,222,261 - 11,222,261CLINVAR
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: 11524227
Created: 2016-08-09
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.