Variant #0000502632 (NC_000001.10:g.116670844G>T, MAB21L3(NM_152367.2):c.739G>T)

Chromosome 1
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.116670844G>T
DNA change (hg38) g.116128223G>T
Published as MAB21L3(NM_152367.2):c.739G>T (p.E247*)
ISCN -
DB-ID MAB21L3_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00024 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAB21L3 NM_152367.2 ?/. - c.739G>T r.(?) p.(Glu247Ter)