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Variant : CV570997 (NM_001258392.3(CLPB):c.1167+5G>T) Homo sapiens

Symbol: CV570997
Name: NM_001258392.3(CLPB):c.1167+5G>T
Condition: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia [RCV000696412]
Clinical Significance: pathogenic
Last Evaluated: 06/28/2018
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): NM_001258392.3:c.1167+5G>T
NG_042130.1:g.137386G>T
NC_000011.10:g.72302299C>A
NC_000011.9:g.72013343C>A
LRG_1338t1:c.1167+5G>T
NM_001258393.3:c.1080+5G>T
NM_001258394.2:c.1122+5G>T
NM_030813.6:c.1257+5G>T
LRG_1338:g.137386G>T
NG_042130.2:g.137386G>T
NM_030813.5:c.1257+5G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,302,299 - 72,302,299CLINVAR
GRCh371172,013,343 - 72,013,343CLINVAR
Cytogenetic Map1111q13.4CLINVAR
Trait Synonyms: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13821809
Created: 2018-11-06
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.