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Variant : CV434254 (NM_001195800.2(LDLR):c.314-708_314del) Homo sapiens

Symbol: CV434254
Name: NM_001195800.2(LDLR):c.314-708_314del
Condition: Familial hypercholesterolemia [RCV000508790]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: LDLR  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: research
HGVS Name(s): LRG_274:g.22304_23012del
NM_001195800.2:c.314-708_314del
NM_001195803.2:c.433_437del
NM_001195799.2:c.691_695del
NM_000527.4:c.814_818del
NM_001195798.2:c.814_818del
NG_009060.1:g.22304_23012del
NC_000019.10:g.11106684_11107392del
NC_000019.9:g.11217360_11218068del
LRG_274p1:p.Asn272fs
NP_001182732.1:p.Asn145fs
NP_001182728.1:p.Asn231fs
NP_000518.1:p.Asn272fs
NP_001182727.1:p.Asn272fs
LRG_274t1:c.814_818del
NC_000019.9:g.11217360_11218068del709
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,106,684 - 11,107,392CLINVAR
GRCh371911,217,360 - 11,218,068CLINVAR
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

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13437417
Created: 2017-10-10
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.