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Variant : CV619805 (NM_000527.4(LDLR):c.1186+3G>A) Homo sapiens

Symbol: CV619805
Name: NM_000527.4(LDLR):c.1186+3G>A
Condition: Familial hypercholesterolemias [RCV000776613]
Clinical Significance: likely benign
Last Evaluated: 10/18/2018
Review Status: criteria provided, single submitter
Related Genes: LDLR  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_274t1:c.1186+3G>A
NM_000527.4:c.1186+3G>A
LRG_274:g.27262G>A
NG_009060.1:g.27262G>A
NC_000019.10:g.11111642G>A
NC_000019.9:g.11222318G>A
NM_001195799.2:c.1063+3G>A
NM_001195798.2:c.1186+3G>A
NM_001195800.2:c.682+3G>A
NM_001195803.2:c.805+3G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381911,111,642 - 11,111,642CLINVAR
GRCh371911,222,318 - 11,222,318CLINVAR
Cytogenetic Map1919p13.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14694217
Created: 2019-06-11
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.