Variant #0000002885 (NC_000011.10:g.5225923G>A, HBB(NM_000518.4):c.316-197C>T)

Individual ID 00000699
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5225923G>A
Published as -
Reference Jin-Ai M A Tan et al.(2014)
DB-ID HBB_000015 See all 29 reported entries
dbSNP ID rs34451549
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
HBB NM_000518.4 +/. 2i c.316-197C>T IVS2-654 r.(=) p.(=) - Pathogenic / Likely Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000771 DNA PCRm;SEQ HBB 2 Nur Aisyah Athirah