Full data view for gene MANBA

Information The variants shown are described using the NM_005908.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.2246T>A r.(?) p.(Leu749His) Unknown - likely benign g.103556114A>T g.102634957A>T MANBA(NM_005908.3):c.2246T>A (p.(Leu749His)) - MANBA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2246T>A r.(?) p.(Leu749His) Unknown - likely benign g.103556114A>T g.102634957A>T - - MANBA_000022 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.021 - 0 - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - 1 Global Variome, with Curator vacancy
Legend   How to query