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Variant : CV567527 (NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)) Homo sapiens

Symbol: CV567527
Name: NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
Condition: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia [RCV000698455]
Clinical Significance: uncertain significance
Last Evaluated: 05/17/2018
Review Status: criteria provided, single submitter
Related Genes: CLPB  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_1338t1:c.908A>G
NM_001258393.3:c.821A>G
NM_001258394.2:c.863A>G
LRG_1338p1:p.Glu303Gly
NP_001245322.1:p.Glu274Gly
NP_001245323.1:p.Glu288Gly
NG_042130.2:g.122499A>G
NP_001245321.1:p.Glu303Gly
NP_110440.1:p.Glu333Gly
NG_042130.1:g.122499A>G
NC_000011.10:g.72317186T>C
NC_000011.9:g.72028230T>C
NM_001258392.3:c.908A>G
NM_030813.6:c.998A>G
LRG_1338:g.122499A>G
NM_030813.5:c.998A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,317,186 - 72,317,186CLINVAR
GRCh371172,028,230 - 72,028,230CLINVAR
Cytogenetic Map1111q13.4CLINVAR
Trait Synonyms: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13802579
Created: 2018-11-06
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.