Variant #0000085321 (NC_000001.10:g.35250457C>T, NM_024009.2:c.94C>T (GJB3))

Individual ID 00055347
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.35250457C>T
DNA change (hg38) g.34784856C>T
Published as -
ISCN -
DB-ID GJB3_000011 See all 7 reported entries
Variant remarks -
Reference PubMed: Kelsell 2000
ClinVar ID -
dbSNP ID rs1805063
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02366 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-10-23 14:44:42 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJB3 NM_024009.2 -/- 2 c.94C>T r.(?) p.(Arg32Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055300 DNA SEQ - - GJB3 1 Johan den Dunnen


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