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Variant : CV371695 (NM_001258392.3(CLPB):c.1429C>T (p.Leu477=)) Homo sapiens

Symbol: CV371695
Name: NM_001258392.3(CLPB):c.1429C>T (p.Leu477=)
Condition: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia [RCV000653276]|not specified [RCV000422012]
Clinical Significance: benign|likely benign
Last Evaluated: 10/14/2017
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): NG_042130.2:g.144136C>T
NM_030813.5:c.1519C>T
NM_030813.6:c.1519C>T
LRG_1338p1:p.Leu477=
NG_042130.1:g.144136C>T
NC_000011.10:g.72295549G>A
NC_000011.9:g.72006593G>A
NP_110440.1:p.Leu507=
NP_001245321.1:p.Leu477=
LRG_1338t1:c.1429C>T
NP_001245322.1:p.Leu448=
NP_001245323.1:p.Leu462=
NM_001258393.3:c.1342C>T
NM_001258394.2:c.1384C>T
NM_001258392.3:c.1429C>T
LRG_1338:g.144136C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,295,549 - 72,295,549CLINVAR
GRCh371172,006,593 - 72,006,593CLINVAR
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: 12835623
Created: 2017-04-11
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.