Genomic variant #0000194380

Individual ID 00117830
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.233405371_233405379dup
DNA change (hg38) g.232540661_232540669dup
Published as -
ISCN -
DB-ID CHRNG_000037
Variant remarks compound heterozygote. ; Previously reported:CDNA 300dup(9), mature protein after signal peptide cleavage 79dup(3).
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CHRNG NM_005199.4 +/+ 4 c.300_308dup - r.(?) p.(Arg101_Pro103dup)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118293 DNA SEQ - - CHRNG 2 Johan den Dunnen