Variant #0000194396 (NC_000002.11:g.233407740_233407741del, CHRNG(NM_005199.4):c.753_754del)

Individual ID 00117827
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.233407740_233407741del
DNA change (hg38) g.232543030_232543031del
Published as 753_754delCT
ISCN -
DB-ID CHRNG_000008 See all 5 reported entries
Variant remarks Compound Heterozygote
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00176 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNG NM_005199.4 +/+ 7 c.753_754del r.(?) p.(Val253Alafs*44)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118290 DNA SEQ - - CHRNG 2 Johan den Dunnen