Variant #0000790848 (NC_000013.10:g.36050124C>A, MAB21L1(NM_005584.4):c.152G>T)

Individual ID 00376964
Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.36050124C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID MAB21L1_000001 See all 2 reported entries
Variant remarks -
Reference PubMed: Seese 2021, Journal: Seese 2021
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 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.152G>T r.(?) p.(Arg51Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000378169 DNA SEQ - - MAB21L1 1 Johan den Dunnen