Variant #0000720860 (NC_000006.11:g.32552137_32552138insA, NM_002124.3:c.118_119insT (HLA-DRB1))

Chromosome 6
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.32552137_32552138insA
DNA change (hg38) -
Published as HLA-DRB1(NM_002124.3):c.118_119insT (p.P40Lfs*2)
ISCN -
DB-ID HLA-DRB1_000014 See all 2 reported entries
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) 0.18307 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2021-02-08 18:36:18 +01:00 (CET)
Date last edited 2024-04-19 20:27:30 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HLA-DRB1 NM_002124.3 -/. - c.118_119insT r.(?) p.(Pro40LeufsTer2)


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