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Variant : CV434822 (NM_001195800.2(LDLR):c.314-2124_314-2110del) Homo sapiens

Symbol: CV434822
Name: NM_001195800.2(LDLR):c.314-2124_314-2110del
Condition: Familial hypercholesterolemia [RCV000509240]
Clinical Significance: likely pathogenic
Last Evaluated: 03/01/2016
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion|intron variant
Evidence: research
HGVS Name(s): LRG_274p1:p.Cys121_Gln125del
NP_000518.1:p.Cys121_Gln125del
LRG_274t1:c.362_376del
NM_000527.4:c.362_376del
LRG_274:g.20888_20902del
NG_009060.1:g.20888_20902del
NM_001195799.2:c.239_253del
NM_001195803.2:c.314-1297_314-1283del
NM_001195800.2:c.314-2124_314-2110del
NM_000527.4:c.362_376del
NM_001195798.2:c.362_376del
NC_000019.9:g.11215944_11215958del
NC_000019.10:g.11105268_11105282del
NP_001182727.1:p.Cys121_Gln125del
NP_001182728.1:p.Cys80_Gln84del
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,105,268 - 11,105,282CLINVAR
GRCh371911,215,944 - 11,215,958CLINVAR
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



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13442703
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2019-11-05
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.