Genomic variant #0000194378

Individual ID 00117828
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.233405327C>T
DNA change (hg38) g.232540617C>T
Published as -
ISCN -
DB-ID CHRNG_000047
Variant remarks Compound heterozygote; Previously reported:cDNA 256C->T, Mature protein after signal peptide cleavage R64C.
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.256C>T - r.(?) p.(Arg86Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118291 DNA SEQ - - CHRNG 1 Johan den Dunnen