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Variant : CV246356 (NM_000527.4(LDLR):c.1829_1831del (p.Ser610del)) Homo sapiens

Symbol: CV246356
Name: NM_000527.4(LDLR):c.1829_1831del (p.Ser610del)
Condition: Familial hypercholesterolemia [RCV000237803]|Familial hypercholesterolemias [RCV000791980]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/20/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: LDLR  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion|inframe_variant
Evidence: clinical testing|literature only
HGVS Name(s): c.1829_1831del
LRG_274p1:p.Ser610del
NP_000518.1:p.Ser610del
LRG_274:g.32602_32604del
NM_001195803.2:c.1448_1450del
LRG_274t1:c.1829_1831del
NM_000527.4:c.1829_1831del
NM_001195800.2:c.1325_1327del
NM_001195799.2:c.1706_1708del
NM_000527.4:c.1829_1831del
NM_001195798.2:c.1829_1831del
NG_009060.1:g.32602_32604del
NC_000019.10:g.11116982_11116984del
NP_001182729.1:p.Ser442del
NP_001182732.1:p.Ser483del
NP_001182728.1:p.Ser569del
NP_001182727.1:p.Ser610del
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,982 - 11,116,984CLINVAR
GRCh371911,227,658 - 11,227,660CLINVAR
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: 11524796
Created: 2016-08-09
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.