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Variant : CV618932 (NM_000527.4(LDLR):c.64G>T (p.Ala22Ser)) Homo sapiens

Symbol: CV618932
Name: NM_000527.4(LDLR):c.64G>T (p.Ala22Ser)
Condition: Familial hypercholesterolemias [RCV000775622]
Clinical Significance: uncertain significance
Last Evaluated: 10/03/2018
Review Status: criteria provided, single submitter
Related Genes: LDLR   LDLR-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_274t1:c.64G>T
LRG_274:g.5232G>T
NG_009060.1:g.5232G>T
NC_000019.10:g.11089612G>T
NC_000019.9:g.11200288G>T
LRG_274p1:p.Ala22Ser
NP_000518.1:p.Ala22Ser
NM_001195798.2:c.64G>T
NM_001195799.2:c.64G>T
NM_001195800.2:c.64G>T
NM_001195803.2:c.64G>T
NP_001182727.1:p.Ala22Ser
NP_001182728.1:p.Ala22Ser
NP_001182729.1:p.Ala22Ser
NP_001182732.1:p.Ala22Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,089,612 - 11,089,612CLINVAR
GRCh371911,200,288 - 11,200,288CLINVAR
Cytogenetic Map1919p13.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14694028
Created: 2019-06-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.