Variant #0000194386 (NC_000002.11:g.233406134_233406135del, CHRNG(NM_005199.4):c.401_402del)
Individual ID |
00117836 |
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.233406134_233406135del |
DNA change (hg38) |
g.232541424_232541425del |
Published as |
401_402delCT |
ISCN |
- |
DB-ID |
CHRNG_000048 |
Variant remarks |
Homozygote; Previously reported: c.401_402delCT, p.Pro134ArgfsX34. |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
8.0E-5 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Julia Vogt |

Variant on transcripts
Screenings
|
|