Variant #0000736888 (NC_000013.10:g.36050124C>A, MAB21L1(NM_005584.4):c.152G>T)

Individual ID 00336029
Chromosome 13
Allele Paternal (confirmed)
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) g.35475987C>A
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
Segregation -
Frequency -
Re-site sseese
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Sarah Seese
Database submission license No license selected
Created by Sarah Seese
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     
0000337259 DNA SEQ-NG - WES - 1 Sarah Seese