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Variant : CV245773 (NM_000527.4(LDLR):c.761A>C (p.Gln254Pro)) Homo sapiens

Symbol: CV245773
Name: NM_000527.4(LDLR):c.761A>C (p.Gln254Pro)
Condition: Familial hypercholesterolemia - homozygous [RCV000844739]|Familial hypercholesterolemia [RCV000237699]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 12/19/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing|literature only|research
HGVS Name(s): NM_000527.4:c.761A>C
LRG_274t1:c.761A>C
LRG_274:g.22251A>C
NG_009060.1:g.22251A>C
NC_000019.10:g.11106631A>C
NC_000019.9:g.11217307A>C
c.761A>C
LRG_274p1:p.Gln254Pro
NP_000518.1:p.Gln254Pro
P01130:p.Gln254Pro
NP_001182732.1:p.Gln127Pro
NM_001195800.2:c.314-761A>C
NM_001195803.2:c.380A>C
NM_001195799.2:c.638A>C
NM_001195798.2:c.761A>C
NP_001182728.1:p.Gln213Pro
NP_001182727.1:p.Gln254Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,106,631 - 11,106,631CLINVAR
GRCh371911,217,307 - 11,217,307CLINVAR
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: 11524694
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.