Genomic variant #0000604062

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248427G>A
DNA change (hg38) g.5227197G>A
Published as -126 C>T
ISCN -
DB-ID HBB_001872 See all 2 reported entries
Variant remarks -
Reference IthaNet-2546
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     

ClassClinical     

RNA change     

Protein     
HBB NM_000518.4 -/- - c.-176C>T - benign r.(=) p.(=)