Variant #0000604030 (NC_000011.9:g.5247926T>C, HBB(NM_000518.4):c.196A>G)

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.5247926T>C
DNA change (hg38) g.5226696T>C
Published as CD 6 GAG>GTG [Glu>Val] AND CD 65 AAG>GAG [Lys>Glu], [20A>T;196A>G]
ISCN -
DB-ID HBB_004087 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-2440
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
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.196A>G Hb S-Sao Paulo r.(?) p.(Lys66Glu)