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

Variant : CV246170 (NM_000527.4(LDLR):c.1463T>A (p.Ile488Asn)) Homo sapiens

Symbol: CV246170
Name: NM_000527.4(LDLR):c.1463T>A (p.Ile488Asn)
Condition: Familial hypercholesterolemia [RCV000237707]|Familial hypercholesterolemias [RCV000781505]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 10/22/2018
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:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_000527.4:c.1463T>A
LRG_274t1:c.1463T>A
LRG_274:g.29259T>A
NG_009060.1:g.29259T>A
NC_000019.10:g.11113639T>A
NC_000019.9:g.11224315T>A
c.1463T>A
LRG_274p1:p.Ile488Asn
NP_000518.1:p.Ile488Asn
NM_001195798.2:c.1463T>A
NM_001195800.2:c.959T>A
NP_001182729.1:p.Ile320Asn
NP_001182732.1:p.Ile361Asn
NP_001182728.1:p.Ile447Asn
NP_001182727.1:p.Ile488Asn
NM_001195803.2:c.1082T>A
NM_001195799.2:c.1340T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,113,639 - 11,113,639CLINVAR
GRCh371911,224,315 - 11,224,315CLINVAR
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: 11524702
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.