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Variant : CV354098 (NM_000527.4(LDLR):c.1878del (p.Ala627fs)) Homo sapiens

Symbol: CV354098
Name: NM_000527.4(LDLR):c.1878del (p.Ala627fs)
Condition: Familial hypercholesterolemia [RCV000408847]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 03/01/2016
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_001195798.2:c.1878del
NC_000019.9:g.11230800del
NP_000518.1:p.E626Efs*38
LRG_274:g.35744del
NG_009060.1:g.35744del
LRG_274t1:c.1878del
NC_000019.10:g.11120124del
LRG_274p1:p.Ala627fs
NM_001195800.2:c.1374del
NM_001195803.2:c.1497del
NM_001195799.2:c.1755del
NM_000527.4:c.1878del
NP_001182729.1:p.Ala459fs
NP_001182732.1:p.Ala500fs
NP_001182728.1:p.Ala586fs
NP_000518.1:p.Ala627fs
NP_001182727.1:p.Ala627fs
NP_000518.1:p.E626Efs*38
NM_000527.4:c.1878delA
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,120,124 - 11,120,124CLINVAR
GRCh371911,230,800 - 11,230,800CLINVAR
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: 11634408
Created: 2017-01-11
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.