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Variant : CV434300 (NM_000527.4(LDLR):c.1521G>C (p.Lys507Asn)) Homo sapiens

Symbol: CV434300
Name: NM_000527.4(LDLR):c.1521G>C (p.Lys507Asn)
Condition: Familial hypercholesterolemia [RCV000508709]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): LRG_274t1:c.1521G>C
NM_000527.4:c.1521G>C
LRG_274:g.29317G>C
NG_009060.1:g.29317G>C
NC_000019.10:g.11113697G>C
NC_000019.9:g.11224373G>C
LRG_274p1:p.Lys507Asn
NP_000518.1:p.Lys507Asn
NM_001195800.2:c.1017G>C
NM_001195803.2:c.1140G>C
NM_001195799.2:c.1398G>C
NM_000527.4:c.1521G>C
NM_001195798.2:c.1521G>C
NP_001182729.1:p.Lys339Asn
NP_001182732.1:p.Lys380Asn
NP_001182728.1:p.Lys466Asn
NP_001182727.1:p.Lys507Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,113,697 - 11,113,697CLINVAR
GRCh371911,224,373 - 11,224,373CLINVAR
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: 13437347
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.