Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV461674 (NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser)) Homo sapiens

Symbol: CV461674
Name: NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser)
Condition: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia [RCV000533534]
Clinical Significance: likely benign
Last Evaluated: 08/11/2017
Review Status: criteria provided, single submitter
Related Genes: CLPB  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001258394.2:c.1208A>G
NM_001258392.3:c.1253A>G
NM_030813.6:c.1343A>G
LRG_1338:g.137806A>G
NG_042130.2:g.137806A>G
NC_000011.10:g.72301879T>C
NG_042130.1:g.137806A>G
NP_110440.1:p.Asn448Ser
NC_000011.9:g.72012923T>C
NP_001245321.1:p.Asn418Ser
LRG_1338t1:c.1253A>G
NM_001258393.3:c.1166A>G
NM_030813.5:c.1343A>G
LRG_1338p1:p.Asn418Ser
NP_001245322.1:p.Asn389Ser
NP_001245323.1:p.Asn403Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,301,879 - 72,301,879CLINVAR
GRCh371172,012,923 - 72,012,923CLINVAR
Cytogenetic Map1111q13.4CLINVAR
Trait Synonyms: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13490458
Created: 2018-01-09
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.