Variant #0000730882 (NC_000004.11:g.151505021C>G, MAB21L2(NM_006439.4):c.840C>G)

Individual ID 00332091
Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.151505021C>G
DNA change (hg38) g.150583869C>G
Published as -
ISCN -
DB-ID MAB21L2_000002
Variant remarks ACMG PVS1, PM2, PM6
Reference PubMed: Patel 2017
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
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     
MAB21L2 NM_006439.4 +/. - c.840C>G r.(?) p.(Tyr280*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000333311 DNA SEQ-NG - - MAB21L2 1 LOVD