Variant #0000604075 (NC_000011.9:g.5247961G>A, HBB(NM_000518.4):c.161C>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.5247961G>A
DNA change (hg38) g.5226731G>A
Published as CD 53 GCT>GTT [Ala>Val]
ISCN -
DB-ID HBB_001912 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-2964
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.161C>T Hb Midnapore r.(?) p.(Ala54Val)