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Variant : CV16861 (NM_198996.3(LIPI):c.227G>A (p.Cys76Tyr)) Homo sapiens

Symbol: CV16861
Name: NM_198996.3(LIPI):c.227G>A (p.Cys76Tyr)
Condition: Hypertriglyceridemia, susceptibility to [RCV000001896]
Clinical Significance: risk factor|uncertain significance
Last Evaluated: 03/10/2005
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: LIPI  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NC_000021.9:g.14189302C>T
NC_000021.8:g.15561623C>T
NM_198996.3:c.227G>A
NG_021434.2:g.22632G>A
NP_945347.2:p.Cys76Tyr
NM_001302998.1:c.164G>A
NM_001302999.1:c.164G>A
NM_001303000.1:c.164G>A
NM_001303001.1:c.164G>A
NP_001289927.1:p.Cys55Tyr
NP_001289928.1:p.Cys55Tyr
NP_001289929.1:p.Cys55Tyr
NP_001289930.1:p.Cys55Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh382114,189,302 - 14,189,302CLINVAR
GRCh372115,561,623 - 15,561,623CLINVAR
Cytogenetic Map2121q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8556472
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.