Variant #0000604150 (NC_000011.9:g.5248022C>A, HBB(NM_000518.4):c.100G>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.5248022C>A
DNA change (hg38) g.5226792C>A
Published as CD 33 GTG>TTG [Val>Leu]
ISCN -
DB-ID HBB_001992 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-3364
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 ?/. - c.100G>T Hb Venissieux r.(?) p.(Val34Leu)