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Variant : CV533080 (NM_000527.4(LDLR):c.1819C>T (p.His607Tyr)) Homo sapiens

Symbol: CV533080
Name: NM_000527.4(LDLR):c.1819C>T (p.His607Tyr)
Condition: Familial hypercholesterolemia [RCV000631370]
Clinical Significance: uncertain significance
Last Evaluated: 11/06/2017
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_274p1:p.His607Tyr
NP_000518.1:p.His607Tyr
NG_009060.1:g.32592C>T
LRG_274:g.32592C>T
NC_000019.10:g.11116972C>T
LRG_274t1:c.1819C>T
NM_000527.4:c.1819C>T
NC_000019.9:g.11227648C>T
NM_001195799.2:c.1696C>T
NM_001195798.2:c.1819C>T
NP_001182729.1:p.His439Tyr
NP_001182732.1:p.His480Tyr
NM_001195800.2:c.1315C>T
NM_001195803.2:c.1438C>T
NM_000527.4:c.1819C>T
NP_001182728.1:p.His566Tyr
NP_001182727.1:p.His607Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,972 - 11,116,972CLINVAR
GRCh371911,227,648 - 11,227,648CLINVAR
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: 13613738
Created: 2018-06-12
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.