Variant #0000603492 (NC_000011.9:g.5248206A>K, HBB(NM_000518.4):c.46T>M)

Chromosome 11
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.5248206A>K
DNA change (hg38) g.5226976A>K
Published as CD 15 TGG>AGG or CGG
ISCN -
DB-ID HBB_000697 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-852
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner IthaNet - Petros Kountouris
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 ?/. - c.46T>M Hb Belfast r.(?) p.(Trp16Arg)