Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV434311 (NM_000527.4(LDLR):c.1769_1774del (p.Val590_Asn591del)) Homo sapiens

Symbol: CV434311
Name: NM_000527.4(LDLR):c.1769_1774del (p.Val590_Asn591del)
Condition: Familial hypercholesterolemia [RCV000508964]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: LDLR  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion
Evidence: research
HGVS Name(s): NM_001195800.2:c.1265_1270del
NM_001195803.2:c.1388_1393del
NM_001195799.2:c.1646_1651del
NM_001195798.2:c.1769_1774del
NG_009060.1:g.32542_32547del
NC_000019.9:g.11227598_11227603del
NP_001182729.1:p.Val422_Asn423del
NP_001182732.1:p.Val463_Asn464del
NP_001182728.1:p.Val549_Asn550del
NP_001182727.1:p.Val590_Asn591del
LRG_274p1:p.Val590_Asn591del
NP_000518.1:p.Val590_Asn591del
LRG_274t1:c.1769_1774del
LRG_274:g.32542_32547del
NC_000019.10:g.11116922_11116927del
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,116,922 - 11,116,927CLINVAR
GRCh371911,227,598 - 11,227,603CLINVAR
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: 13437573
Created: 2017-10-10
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.