Variant #0000001223 (NC_000013.11:g.20189214G>T, NM_004004.6:c.368C>A (GJB2))

Individual ID 00000242
Chromosome 13
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.20189214G>T
Published as -
Reference Siti Aishah Zainal et al. (2012), dbSNP, ClinVar
DB-ID GJB2_000006 See all 3 reported entries
dbSNP ID rs111033188
Frequency 1/32
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 2020-12-10 15:24:29 +08:00 (CST)
Date last edited 2021-08-25 09:32:53 +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     
GJB2 NM_004004.6 ./. - c.368C>A - r.(?) p.(Thr123Asn) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000257 DNA DHPLC;SEQ GJB2 13 Nuur Athirah Binti Mohd Daud