Variant #0000194400 (NC_000002.11:g.233407968_233407985del, CHRNG(NM_005199.4):c.806-17_806del)

Individual ID 00117847
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.233407968_233407985del
DNA change (hg38) g.232543258_232543275del
Published as -
ISCN -
DB-ID CHRNG_000057
Variant remarks g.8532_8549del
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 Selma Demir Ulusal
Database submission license No license selected
Created by Selma Demir Ulusal
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNG NM_005199.4 +?/. 8_81 c.806-17_806del r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118310 DNA SEQ - - CHRNG 1 Selma Demir Ulusal