Variant #0000194405 (NC_000002.11:g.233410280C>T, CHRNG(NM_005199.4):c.1408C>T)

Individual ID 00117830
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.233410280C>T
DNA change (hg38) g.232545570C>T
Published as -
ISCN -
DB-ID CHRNG_000038
Variant remarks compound heterozygote. ; Previously reported:CDNA 1408C->T, mature protein after signal peptide cleavage R448X.
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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 +/+ 12 c.1408C>T r.(?) p.(Arg470*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118293 DNA SEQ - - CHRNG 2 Johan den Dunnen