Genomic variant #0000603568

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248000C>T
DNA change (hg38) g.5226770C>T
Published as CD 40 AGG>AAG [Arg>Lys]
ISCN -
DB-ID HBB_000762 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-939
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner IthaNet - Petros Kountouris
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
HBB NM_000518.4 ?/. - c.122G>A Hb Athens-GA VUS r.(?) p.(Arg41Lys)