Variant #0000604179 (NC_000011.9:g.5247968G>A, HBB(NM_000518.4):c.154C>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.5247968G>A
DNA change (hg38) g.5226738G>A
Published as CD 51 CCT>TCT, CD 52 GAT>AAT, [154C>T;157G>A]
ISCN -
DB-ID HBB_004078 See all 2 reported entries
Variant remarks β-chain variant
Reference IthaNet-972
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.154C>T Hb Grenoble r.(?) p.(Pro52Ser)