Genomic variant #0000604121

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.5246892_5246896dup
DNA change (hg38) g.5225662_5225666dup
Published as CD 124-125 (+5bp): (+CCAGT)
ISCN -
DB-ID HBB_004135
Variant remarks β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis
Reference IthaNet-3227
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.376_380dup - r.(?) p.(Ala129Cysfs*32)