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Variant : CV185679 (NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val)) Homo sapiens

Symbol: CV185679
Name: NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val)
Condition: 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA [RCV000167538]|3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia [RCV000167538]
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): NP_001245321.1:p.Gly616Val
NC_000011.10:g.72293554C>A
NC_000011.9:g.72004598C>A
NP_110440.1:p.Gly646Val
NG_042130.1:g.146131G>T
NM_030813.4:c.1937G>T
Q9H078:p.Gly646Val
LRG_1338p1:p.Gly616Val
NG_042130.2:g.146131G>T
NM_030813.5:c.1937G>T
LRG_1338t1:c.1847G>T
NM_001258393.3:c.1760G>T
NM_001258394.2:c.1802G>T
NM_001258392.3:c.1847G>T
NM_030813.6:c.1937G>T
LRG_1338:g.146131G>T
NP_001245322.1:p.Gly587Val
NP_001245323.1:p.Gly601Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,293,554 - 72,293,554CLINVAR
GRCh371172,004,598 - 72,004,598CLINVAR
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: 9854616
Created: 2015-04-07
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.