All variants in the CHRNG gene

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)     

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.56-1G>A r.spl p.? - pathogenic g.233404701G>A g.232539991G>A - - CHRNG_000056 homozygote - - - Germline - - - 0 - Johan den Dunnen
+?/. - c.56-1G>A r.spl p.? ACMG likely pathogenic (recessive) g.233404701G>A g.232539991G>A - - CHRNG_000056 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - Gianina Ravenscroft
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