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Variant : CV246351 (NM_000527.4(LDLR):c.1823C>G (p.Pro608Arg)) Homo sapiens

Symbol: CV246351
Name: NM_000527.4(LDLR):c.1823C>G (p.Pro608Arg)
Condition: Familial hypercholesterolemia [RCV000237810]
Clinical Significance: likely pathogenic
Last Evaluated: 12/16/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_001195800.2:c.1319C>G
NM_001195803.2:c.1442C>G
NM_001195799.2:c.1700C>G
LRG_274t1:c.1823C>G
LRG_274:g.32596C>G
NG_009060.1:g.32596C>G
NC_000019.10:g.11116976C>G
NC_000019.9:g.11227652C>G
c.1823C>G
LRG_274p1:p.Pro608Arg
NP_000518.1:p.Pro608Arg
NP_001182729.1:p.Pro440Arg
NP_001182732.1:p.Pro481Arg
NP_001182728.1:p.Pro567Arg
NP_001182727.1:p.Pro608Arg
NM_001195798.2:c.1823C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,976 - 11,116,976CLINVAR
GRCh371911,227,652 - 11,227,652CLINVAR
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
Prevalence: 1-9 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11524802
Created: 2016-08-09
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.