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     
-/. - c.1422C>T benign r.(=) p.(=) g.233410294C>T - CHRNG:c.1422C>T (=) - CHRNG_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. 12 c.1422C>T - r.(?) p.(=) g.233410294C>T - - - CHRNG_000064 - - - - Uniparental disomy, maternal allele - 0.2 controls - 0 - Florian Erger
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