Variant #0000603512 (NC_000011.9:g.5248185C>G, HBB(NM_000518.4):c.67G>C)

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.5248185C>G
DNA change (hg38) g.5226955C>G
Published as CD 22 GAA>CAA
ISCN -
DB-ID HBB_000719 See all 14 reported entries
Variant remarks β-chain variant
Reference IthaNet-873
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner IthaNet - Petros Kountouris
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)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 ?/. - c.67G>C Hb D-Iran r.(?) p.(Glu23Gln)