Variant #0000603904 (NC_000011.9:g.5246839del, HBB(NM_000518.4):c.434del)

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.5246839del
DNA change (hg38) g.5225609del
Published as CD 144 (-A), 434delA
ISCN -
DB-ID HBB_001301 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-1302
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 ?/. - c.434del Hb Trento r.(?) p.(Lys145Serfs*14)