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Variant : CV461463 (NM_001258392.3(CLPB):c.1704G>A (p.Thr568=)) Homo sapiens

Symbol: CV461463
Name: NM_001258392.3(CLPB):c.1704G>A (p.Thr568=)
Condition: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia [RCV000553649]|not specified [RCV000610371]
Clinical Significance: likely benign
Last Evaluated: 01/04/2018
Review Status: criteria provided, single submitter
Related Genes: CLPB  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.72294103C>T
NP_110440.1:p.Thr598=
NG_042130.1:g.145582G>A
NC_000011.9:g.72005147C>T
NP_001245321.1:p.Thr568=
LRG_1338t1:c.1704G>A
NM_001258393.3:c.1617G>A
NM_030813.6:c.1794G>A
LRG_1338:g.145582G>A
LRG_1338p1:p.Thr568=
NP_001245322.1:p.Thr539=
NP_001245323.1:p.Thr553=
NM_001258394.2:c.1659G>A
NM_001258392.3:c.1704G>A
NG_042130.2:g.145582G>A
NM_030813.5:c.1794G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,294,103 - 72,294,103CLINVAR
GRCh371172,005,147 - 72,005,147CLINVAR
Cytogenetic Map1111q13.4CLINVAR
Trait Synonyms: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII; AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13486281
Created: 2018-01-09
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.