Variant #0000684749 (NC_000004.11:g.103556114A>T, MANBA(NM_005908.3):c.2246T>A)

Individual ID 00308702
Chromosome 4
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.103556114A>T
DNA change (hg38) g.102634957A>T
Published as -
ISCN -
DB-ID MANBA_000022 See all 2 reported entries
Variant remarks classification based on frequency in 305 unrelated individuals
Reference PubMed: Le 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency frequency 0.021
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00204 View details
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MANBA NM_005908.3 -?/. - c.2246T>A r.(?) p.(Leu749His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309847 DNA SEQ;SEQ-NG - 105 WGS/200 WES MANBA 1 Global Variome, with Curator vacancy