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

Variant : CV246407 (NM_000527.4(LDLR):c.1911C>T (p.Ser637=)) Homo sapiens

Symbol: CV246407
Name: NM_000527.4(LDLR):c.1911C>T (p.Ser637=)
Condition: Familial hypercholesterolemia [RCV000237872]|Familial hypercholesterolemias [RCV000775080]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 06/01/2017
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing|literature only|research
HGVS Name(s): NM_000527.4:c.1911C>T
LRG_274t1:c.1911C>T
LRG_274:g.35777C>T
NG_009060.1:g.35777C>T
NC_000019.10:g.11120157C>T
NC_000019.9:g.11230833C>T
c.1911C>T
LRG_274p1:p.Ser637=
NP_000518.1:p.Ser637=
NM_001195800.2:c.1407C>T
NM_001195803.2:c.1530C>T
NM_001195799.2:c.1788C>T
NM_001195798.2:c.1911C>T
NP_001182729.1:p.Ser469=
NP_001182728.1:p.Ser596=
NP_001182727.1:p.Ser637=
NP_001182732.1:p.Ser510=
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,120,157 - 11,120,157CLINVAR
GRCh371911,230,833 - 11,230,833CLINVAR
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: 11524862
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

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