Genomic variant #0000603642

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247924C>R
DNA change (hg38) g.5226694C>R
Published as CD 65 AAG>AAC or AAT
ISCN -
DB-ID HBB_000814 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-1017
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner IthaNet - Petros Kountouris




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
HBB NM_000518.4 ?/. - c.198G>Y Hb J-Sicilia VUS r.(?) p.(Lys66Asn)