Variant #0000474929 (NC_000001.10:g.228346082G>T, GJC2(NM_020435.3):c.623G>T)

Individual ID 00231414
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.228346082G>T
DNA change (hg38) g.228158381G>T
Published as -
ISCN -
DB-ID GJC2_000041
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gemeinschaftspraxis für Humangenetik Dresden
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Gemeinschaftspraxis für Humangenetik Dresden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJC2 NM_020435.3 ?/. - c.623G>T r.(?) p.(Gly208Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232513 DNA SEQ-NG - - GJC2 2 Gemeinschaftspraxis für Humangenetik Dresden