Variant #0000000352 (NC_000011.10:g.5226995dupC, HBB(NM_000518.4):c.27dupG)

Individual ID 00000066
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226995dupC
Published as CD 8/9 +AGAA
Reference Meow-Keong Thong et al. (2005), dbSNP, (OMIM 0325), ClinVar
DB-ID HBB_000022 See all 8 reported entries
dbSNP ID rs35699606
Frequency 1/46
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
Options




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.27dupG CD 8/9 +AGAA r.(?) p.(Ser10Valfs*14) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000079 DNA PCRm HBB 10 Nuur Athirah Binti Mohd Daud