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Variant : CV434277 (NM_000527.4(LDLR):c.1154T>C (p.Leu385Pro)) Homo sapiens

Symbol: CV434277
Name: NM_000527.4(LDLR):c.1154T>C (p.Leu385Pro)
Condition: Familial hypercholesterolemia [RCV000508767]
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.1154T>C
LRG_274:g.27227T>C
NG_009060.1:g.27227T>C
NC_000019.10:g.11111607T>C
NC_000019.9:g.11222283T>C
LRG_274p1:p.Leu385Pro
NP_000518.1:p.Leu385Pro
NM_001195799.2:c.1031T>C
NM_001195798.2:c.1154T>C
NM_001195800.2:c.650T>C
NM_001195803.2:c.773T>C
NP_001182729.1:p.Leu217Pro
NP_001182732.1:p.Leu258Pro
NP_001182728.1:p.Leu344Pro
NP_001182727.1:p.Leu385Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,111,607 - 11,111,607CLINVAR
GRCh371911,222,283 - 11,222,283CLINVAR
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: 13437399
Created: 2017-10-10
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.