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Variant : CV78993 (NM_000527.4(LDLR):c.1875C>T (p.Asn625=)) Homo sapiens

Symbol: CV78993
Name: NM_000527.4(LDLR):c.1875C>T (p.Asn625=)
Condition: Familial hypercholesterolemia [RCV000210227]|Familial hypercholesterolemias [RCV000771316]|not provided [RCV000058920]|not specified [RCV000606941]
Clinical Significance: likely benign|not provided
Last Evaluated: 01/02/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion provided|not classified by submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing|literature only|not provided|research
HGVS Name(s): LRG_274t1:c.1875C>T
NM_000527.4:c.1875C>T
LRG_274:g.35741C>T
NG_009060.1:g.35741C>T
NC_000019.10:g.11120121C>T
NC_000019.9:g.11230797C>T
NP_000518.1:p.Asn625=
LRG_274p1:p.Asn625=
p.Asn625Asn
c.1875C>T
NM_000527.4:c.1875C>T
NM_001195798.2:c.1875C>T
NP_001182729.1:p.Asn457=
NP_001182732.1:p.Asn498=
NP_001182728.1:p.Asn584=
NP_001182727.1:p.Asn625=
NM_001195800.2:c.1371C>T
NM_001195803.2:c.1494C>T
NM_001195799.2:c.1752C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,120,121 - 11,120,121CLINVAR
GRCh371911,230,797 - 11,230,797CLINVAR
Cytogenetic Map1919p13.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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 - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8623907
Created: 2014-05-13
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.