Variant #0000194402 (NC_000002.11:g.233409290G>C, CHRNG(NM_005199.4):c.1249G>C)

Individual ID 00117848
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.233409290G>C
DNA change (hg38) g.232544580G>C
Published as -
ISCN -
DB-ID CHRNG_000046
Variant remarks Homozygote; Previously reported:cDNA 1249G->C, Mature protein after signal peptide cleavage395-418, 419X.
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 +/+ 10 c.1249G>C r.(?) p.(Glu417Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118311 DNA SEQ - - CHRNG 1 Johan den Dunnen