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Variant : CV526531 (NM_001258392.3(CLPB):c.646+7280C>T) Homo sapiens

Symbol: CV526531
Name: NM_001258392.3(CLPB):c.646+7280C>T
Condition: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia [RCV000653274]
Clinical Significance: likely benign
Last Evaluated: 09/05/2017
Review Status: criteria provided, single submitter
Related Genes: CLPB  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_042130.1:g.66684C>T
NC_000011.10:g.72373001G>A
NC_000011.9:g.72084045G>A
NP_110440.1:p.Asp220=
LRG_1338t1:c.646+7280C>T
NM_001258394.2:c.525C>T
NM_001258393.3:c.559+7280C>T
NM_001258392.3:c.646+7280C>T
NM_030813.6:c.660C>T
NG_042130.2:g.66684C>T
NM_030813.5:c.660C>T
NP_001245323.1:p.Asp175=
LRG_1338:g.66684C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,373,001 - 72,373,001CLINVAR
GRCh371172,084,045 - 72,084,045CLINVAR
Cytogenetic Map1111q13.4CLINVAR
Trait Synonyms: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13625319
Created: 2018-06-12
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.