Variant #0000001812 (NC_000023.10:g.70444171A>G, GJB1(NM_001097642.2):c.614A>G)

Individual ID 00001812
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70444171A>G
Reference B?hr M1, Andres F, Timmerman V, Nelis ME, Van Broeckhoven C, Dichgans J.(1999)
DB-ID GJB1_000017
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
GJB1 NM_001097642.2 ./. 2 c.614A>G r.(?) p.(Asn205Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001812 ? ? GJB1 1 Y Yang