Variant #0000787480 (NC_000001.10:g.228346441del, GJC2(NM_020435.3):c.982del)

Individual ID 00374328
Chromosome 1
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.228346441del
DNA change (hg38) g.228158740del
Published as -
ISCN -
DB-ID GJC2_000065
Variant remarks -
Reference 0
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJC2 NM_020435.3 +?/. 2 c.982del r.(?) p.(Ala328ProfsTer143)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375522 DNA SEQ-NG - TruSight One panel GJC2 2 Johan den Dunnen