Variant #0000194399 (NC_000002.11:g.233407986dup, CHRNG(NM_005199.4):c.807dup)

Individual ID 00117846
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.233407986dup
DNA change (hg38) g.232543276dup
Published as 807dupT
ISCN -
DB-ID CHRNG_000045 See all 2 reported entries
Variant remarks Homozygote; Previously reported:cDNA 807insT, Mature protein after signal peptide cleavage248-274, 275X.
Reference -
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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Julia Vogt
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNG NM_005199.4 +/+ 8 c.807dup r.(?) p.(Gly270Trpfs*28)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118309 DNA SEQ - - CHRNG 1 Johan den Dunnen