Variant #0000604171 (NC_000011.9:g.5248147C>A, HBB(NM_000518.4):c.92+13G>T)

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248147C>A
DNA change (hg38) g.5226917C>A
Published as IVS I-13 G>T
ISCN -
DB-ID HBB_004173
Variant remarks -
Reference IthaNet-3445
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner IthaNet - Petros Kountouris
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 -/- - c.92+13G>T - r.spl? p.(=)