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Variant : CV434232 (NM_000527.4(LDLR):c.565del (p.Val189fs)) Homo sapiens

Symbol: CV434232
Name: NM_000527.4(LDLR):c.565del (p.Val189fs)
Condition: Familial hypercholesterolemia [RCV000508803]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: LDLR  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: research
HGVS Name(s): LRG_274t1:c.565del
LRG_274:g.21091del
NM_001195803.2:c.314-1094del
NM_001195800.2:c.314-1921del
NM_001195799.2:c.442del
NM_001195798.2:c.565del
NG_009060.1:g.21091del
NC_000019.10:g.11105471del
NC_000019.9:g.11216147del
LRG_274p1:p.Val189fs
NP_001182728.1:p.Val148fs
NP_000518.1:p.Val189fs
NP_001182727.1:p.Val189fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,471 - 11,105,471CLINVAR
GRCh371911,216,147 - 11,216,147CLINVAR
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: 13437430
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.