Variant #0000603899 (NC_000011.9:g.5246842G>A, HBB(NM_000518.4):c.430C>T)

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.5246842G>A
DNA change (hg38) g.5225612G>A
Published as CD 143 CAC>TAC
ISCN -
DB-ID HBB_001017 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-1297
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner IthaNet - Petros Kountouris
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 ?/. - c.430C>T Hb Old Dominion/Burton-upon-Trent (OD/BuT) r.(?) p.(His144Tyr)