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     
+/+ 7 c.715C>T - r.(?) p.(Arg239Cys) g.233407702C>T g.232542992C>T - - CHRNG_000043 Homozygote; Previously reported:cDNA 715C->T, Mature protein after signal peptide cleavage R217C. - - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.715C>T - r.(?) p.(Arg239Cys) g.233407702C>T g.232542992C>T - - CHRNG_000043 Homozygote; Previously reported:cDNA 715C->T, Mature protein after signal peptide cleavage R217C. - - - Germline - - - 0 - Johan den Dunnen
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