Variant #0000439394 (NC_000004.11:g.103590853_103590921insA, MANBA(NM_005908.3):c.?)

Individual ID 00208206
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.103590853_103590921insA
DNA change (hg38) -
Published as chr4 g.103590853_103590921ins103585729_103598877inv
ISCN -
DB-ID MANBA_000000
Variant remarks Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jorge Asin Cayuela
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.? r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209253 DNA SEQ - - MANBA 1 Johan den Dunnen