Variant #0000602072 (NC_000011.9:g.5247859G>T, HBB(NM_000518.4):c.263C>A)

Individual ID 00268251
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.5247859G>T
DNA change (hg38) g.5226629G>T
Published as -
ISCN -
DB-ID HBB_000867 See all 2 reported entries
Variant remarks -
Reference data from Globin Gene Server (HbVar-416), OMIM:var0062, ExPASy_002991, PubMed: Castro O
ClinVar ID -
dbSNP ID rs33993568
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner HbVar - Belinda Giardine and Ross Hardison
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HBB NM_000518.4 +?/. 2 c.263C>A Hb D-Ibadan r.(?) p.(Thr88Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000269380 DNA ? - - HBB 1 HbVar - Belinda Giardine and Ross Hardison