Variant #0000664292 (NC_000002.11:g.233406153G>A, CHRNG(NM_005199.4):c.420G>A)

Individual ID 00300249
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.233406153G>A
DNA change (hg38) g.232541443G>A
Published as -
ISCN -
DB-ID CHRNG_000084
Variant remarks ACMG grading: PVS1,PM2
Reference -
ClinVar ID -
dbSNP ID rs201762781
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNG NM_005199.4 +?/. - c.420G>A r.(?) p.(Trp140*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000301367 DNA SEQ-NG-S - - - 1 Andreas Laner