Variant #0000000432 (NC_000011.10:g.5226994_5226995insTTCT, NM_000518.4:c.27_28insAGAA (HBB))

Individual ID 00000081
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226994_5226995insTTCT
Published as CD 8/9
Reference Mohd Rashdan Abd Rahim et al. (2015), ClinVar
DB-ID HBB_000033 See all 4 reported entries
dbSNP ID -
Frequency 1/1
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-10-21 16:31:41 +08:00 (CST)
Date last edited 2020-11-30 17:05:58 +08:00 (CST)
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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 +/. 1 c.27_28insAGAA CD 8/9 r.(?) p.(Ser10Argfs*15) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000094 DNA PCRm HBB 2 Nuur Athirah Binti Mohd Daud