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Variant : CV640450 (NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)) Homo sapiens

Symbol: CV640450
Name: NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
Condition: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia [RCV000796680]
Clinical Significance: uncertain significance
Last Evaluated: 07/30/2018
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.1592G>A
NM_001258393.3:c.1505G>A
NM_001258394.2:c.1547G>A
NM_001258392.3:c.1592G>A
NM_030813.6:c.1682G>A
LRG_1338:g.145272G>A
NG_042130.1:g.145272G>A
NG_042130.2:g.145272G>A
NC_000011.10:g.72294413C>T
NC_000011.9:g.72005457C>T
NM_030813.5:c.1682G>A
LRG_1338p1:p.Arg531Gln
NP_001245322.1:p.Arg502Gln
NP_001245323.1:p.Arg516Gln
NP_001245321.1:p.Arg531Gln
NP_110440.1:p.Arg561Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,294,413 - 72,294,413CLINVAR
GRCh371172,005,457 - 72,005,457CLINVAR
Cytogenetic Map1111q13.4CLINVAR
Trait Synonyms: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14720529
Created: 2019-09-06
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.