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 InternationalCreative Commons License
Created by Julia Vogt
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNG NM_005199.4 +/+ 5 c.401_402del r.(?) p.(Pro134Argfs*43)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118299 DNA SEQ - - CHRNG 1 Johan den Dunnen