Variant #0000002566 (NC_000013.11:g.20189214G>T, NM_004004.6:c.368C>A (GJB2))

Individual ID 00000573
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.20189214G>T
Published as -
Reference Yock-Ping Chow et al.(2017)
DB-ID GJB2_000006 See all 3 reported entries
dbSNP ID rs111033188
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
Date created 2021-04-07 11:27:08 +08:00 (CST)
Date last edited 2021-08-01 14:06:57 +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) - Benign/Likely benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000626 DNA PCR;PFGE;SEQ GJB2 1 Nur Aisyah Athirah