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Variant : CV434310 (NM_000527.4(LDLR):c.1753del (p.Ile585fs)) Homo sapiens

Symbol: CV434310
Name: NM_000527.4(LDLR):c.1753del (p.Ile585fs)
Condition: Familial hypercholesterolemia [RCV000508734]
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.1753del
LRG_274:g.32526del
NM_001195800.2:c.1249del
NM_001195803.2:c.1372del
NM_001195799.2:c.1630del
NM_001195798.2:c.1753del
NG_009060.1:g.32526del
NC_000019.10:g.11116906del
NC_000019.9:g.11227582del
LRG_274p1:p.Ile585fs
NP_001182729.1:p.Ile417fs
NP_001182732.1:p.Ile458fs
NP_001182728.1:p.Ile544fs
NP_000518.1:p.Ile585fs
NP_001182727.1:p.Ile585fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,906 - 11,116,906CLINVAR
GRCh371911,227,582 - 11,227,582CLINVAR
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: 13437371
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.