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Variant : CV676943 (NM_001195798.2(LDLR):c.1594T>A (p.Tyr532Asn)) Homo sapiens

Symbol: CV676943
Name: NM_001195798.2(LDLR):c.1594T>A (p.Tyr532Asn)
Condition: Familial hypercholesterolemia [RCV000850047]
Clinical Significance: pathogenic
Last Evaluated: 01/01/2019
Review Status: no assertion criteria provided
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001195803.2:c.1213T>A
NM_001195799.2:c.1471T>A
NM_001195798.2:c.1594T>A
NG_009060.1:g.31721T>A
NC_000019.10:g.11116101T>A
NC_000019.9:g.11226777T>A
NP_001182727.1:p.Tyr532Asn
NM_000527.4:c.1594T>A
NP_001182729.1:p.Tyr364Asn
NP_001182732.1:p.Tyr405Asn
NP_000518.1:p.Tyr532Asn
NP_001182728.1:p.Tyr491Asn
NM_001195800.2:c.1090T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,101 - 11,116,101CLINVAR
GRCh371911,226,777 - 11,226,777CLINVAR
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: 14978033
Created: 2019-10-08
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.