All variants in the CHRNG gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/+ 2 c.136C>T r.(?) p.(Arg46*) - pathogenic g.233404782C>T g.232540072C>T - - CHRNG_000002 homozygote - - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.136C>T r.(?) p.(Arg46*) - pathogenic (recessive) g.233404782C>T g.232540072C>T - - CHRNG_000002 - PubMed: Sher 2018 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.136C>T r.(?) p.(Arg46*) ACMG pathogenic (recessive) g.233404782C>T g.232540072C>T - - CHRNG_000002 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - Gianina Ravenscroft
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