All transcript variants in gene CHRNG

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/+ 2 c.136C>T - r.(?) p.(Arg46*) g.233404782C>T g.232540072C>T - - CHRNG_000002 homozygote - - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.136C>T pathogenic (recessive) r.(?) p.(Arg46*) g.233404782C>T - - - CHRNG_000002 - PubMed: Sher 2018 - - Germline yes - - 0 - Johan den Dunnen
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