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     
+/+ 10 c.1249G>C r.(?) p.(Glu417Gln) - pathogenic g.233409290G>C g.232544580G>C - - CHRNG_000046 Homozygote; Previously reported:cDNA 1249G->C, Mature protein after signal peptide cleavage395-418, 419X. - - - Germline - - - 0 - Johan den Dunnen
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