Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV425052 (NM_000527.4(LDLR):c.1942T>G (p.Ser648Ala)) Homo sapiens

Symbol: CV425052
Name: NM_000527.4(LDLR):c.1942T>G (p.Ser648Ala)
Condition: Familial hypercholesterolemia [RCV000497018]
Clinical Significance: likely pathogenic
Last Evaluated: 03/01/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NM_001195799.2:c.1819T>G
NM_001195798.2:c.1942T>G
NP_001182728.1:p.Ser607Ala
NP_001182727.1:p.Ser648Ala
LRG_274t1:c.1942T>G
LRG_274:g.35808T>G
NG_009060.1:g.35808T>G
NC_000019.10:g.11120188T>G
NC_000019.9:g.11230864T>G
LRG_274p1:p.Ser648Ala
NP_000518.1:p.Ser648Ala
NM_001195800.2:c.1438T>G
NM_001195803.2:c.1561T>G
NP_001182729.1:p.Ser480Ala
NP_001182732.1:p.Ser521Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,120,188 - 11,120,188CLINVAR
GRCh371911,230,864 - 11,230,864CLINVAR
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: 13211281
Created: 2017-09-12
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.