Variant #0000790849 (NC_000013.10:g.36049541dup, MAB21L1(NM_005584.4):c.735dup)

Individual ID 00376965
Chromosome 13
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.36049541dup
DNA change (hg38) -
Published as 735dupG
ISCN -
DB-ID MAB21L1_000006
Variant remarks -
Reference PubMed: Bruel 2017
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 Johan den Dunnen
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     
MAB21L1 NM_005584.4 +?/. - c.735dup r.(?) p.(Cys246Leufs*18)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000378170 DNA SEQ-NG - WES - 1 Johan den Dunnen