Variant #0000367735 (NC_000002.11:g.233409251C>T, CHRNG(NM_005199.4):c.1210C>T)

Individual ID 00163650
Chromosome 2
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.233409251C>T
DNA change (hg38) g.232544541C>T
Published as -
ISCN -
DB-ID CHRNG_000068
Variant remarks -
Reference -
ClinVar ID ClinVar-487641
dbSNP ID -
Origin Uniparental disomy, maternal allele
Segregation -
Frequency 0 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Florian Erger
Database submission license No license selected
Created by Florian Erger
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNG NM_005199.4 +/. 10 c.1210C>T r.(?) p.(Gln404*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164515 DNA SEQ-NG-I Umbilical cord - CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CNTN1, DOK7, KLHL40, MTM1, MUSK, NALCN, RAPSN, UBA1 26 Florian Erger