Variant #0000604010 (NC_000011.9:g.5247996G>C, HBB(NM_000518.4):c.126C>G)

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247996G>C
DNA change (hg38) g.5226766G>C
Published as CD 67 GTG>ATG [Val>Met] AND CD 41 TTC>TTG [Phe>Leu], [202G>A;126C>G]
ISCN -
DB-ID HBB_004086 See all 2 reported entries
Variant remarks β-chain variant, Haemolytic anaemia
Reference IthaNet-2387
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.126C>G Hb Brevedent r.(?) p.(Phe42Leu)