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Variant : CV246373 (NM_000527.4(LDLR):c.1846-10G>T) Homo sapiens

Symbol: CV246373
Name: NM_000527.4(LDLR):c.1846-10G>T
Condition: Familial hypercholesterolemia [RCV000237306]|not specified [RCV000599958]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 11/14/2017
Review Status: criteria provided, conflicting interpretations|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
HGVS Name(s): LRG_274t1:c.1846-10G>T
NM_000527.4:c.1846-10G>T
LRG_274:g.35702G>T
NG_009060.1:g.35702G>T
NC_000019.10:g.11120082G>T
NC_000019.9:g.11230758G>T
c.1846-10G>T
NM_001195800.2:c.1342-10G>T
NM_001195803.2:c.1465-10G>T
NM_001195799.2:c.1723-10G>T
NM_001195798.2:c.1846-10G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,120,082 - 11,120,082CLINVAR
GRCh371911,230,758 - 11,230,758CLINVAR
Cytogenetic Map1919p13.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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: 11524312
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.