Variant #0000603747 (NC_000011.9:g.5247830G>T, HBB(NM_000518.4):c.292C>A)

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.5247830G>T
DNA change (hg38) g.5226600G>T
Published as CD 97 CAC>AAC
ISCN -
DB-ID HBB_001222 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-1127
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner IthaNet - Petros Kountouris
Database submission license No license selected
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.292C>A Hb Santa Clara r.(?) p.(His98Asn)