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Variant : CV424334 (NM_000527.4(LDLR):c.1979A>C (p.Gln660Pro)) Homo sapiens

Symbol: CV424334
Name: NM_000527.4(LDLR):c.1979A>C (p.Gln660Pro)
Condition: Familial hypercholesterolemia [RCV000495887]
Clinical Significance: likely pathogenic
Last Evaluated: 03/30/2017
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001195800.2:c.1475A>C
NP_001182728.1:p.Gln619Pro
NP_001182727.1:p.Gln660Pro
LRG_274t1:c.1979A>C
LRG_274:g.35845A>C
NG_009060.1:g.35845A>C
NC_000019.10:g.11120225A>C
NC_000019.9:g.11230901A>C
LRG_274p1:p.Gln660Pro
NP_000518.1:p.Gln660Pro
NM_001195798.2:c.1979A>C
NP_001182729.1:p.Gln492Pro
NP_001182732.1:p.Gln533Pro
NM_001195803.2:c.1598A>C
NM_001195799.2:c.1856A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,120,225 - 11,120,225CLINVAR
GRCh371911,230,901 - 11,230,901CLINVAR
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: 13207666
Created: 2017-08-08
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.