Variant #0000790850 (NC_000013.10:g.36049436G>C, MAB21L1(NM_005584.4):c.840C>G)

Individual ID 00376966
Chromosome 13
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.36049436G>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID MAB21L1_000007
Variant remarks -
Reference PubMed: Rad 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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.840C>G r.(?) p.(Tyr280*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000378171 DNA SEQ-NG - WES - 1 Johan den Dunnen