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Variant : CV185682 (NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys)) Homo sapiens

Symbol: CV185682
Name: NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys)
Condition: 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA [RCV000167541]|3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia [RCV000167541]
Clinical Significance: pathogenic|not provided
Last Evaluated: 09/14/2016
Review Status: classified by single submitter|no assertion criteria provided|not classified by submitter
Related Genes: CLPB  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NC_000011.10:g.72294047T>C
NC_000011.9:g.72005091T>C
NP_110440.1:p.Tyr617Cys
NG_042130.1:g.145638A>G
NM_030813.4:c.1850A>G
Q9H078:p.Tyr617Cys
NP_001245321.1:p.Tyr587Cys
LRG_1338p1:p.Tyr587Cys
LRG_1338t1:c.1760A>G
NM_001258393.3:c.1673A>G
NM_001258394.2:c.1715A>G
NM_001258392.3:c.1760A>G
NM_030813.6:c.1850A>G
LRG_1338:g.145638A>G
NG_042130.2:g.145638A>G
NM_030813.5:c.1850A>G
NP_001245322.1:p.Tyr558Cys
NP_001245323.1:p.Tyr572Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,294,047 - 72,294,047CLINVAR
GRCh371172,005,091 - 72,005,091CLINVAR
Cytogenetic Map1111q13.4CLINVAR
Trait Synonyms: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9854619
Created: 2015-04-07
Species: Homo sapiens
Last Modified: 2019-11-12
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.