All variants in the CHRNG gene

Information The variants shown are described using the NM_005199.4 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 4 c.301_309dup r.(?) p.(Arg101_Pro103dup) - pathogenic g.233405372_233405380dup g.232540662_232540670dup - - CHRNG_000037 compound heterozygote. ; Previously reported:CDNA 300dup(9), mature protein after signal peptide cleavage 79dup(3). - - - Germline - - - 0 - Johan den Dunnen
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