All transcript variants in gene CHM


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_000390.2 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     

P-domain     

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     
+/+ 2i c.116+1G>T pathogenic r.50_116del p.Gly17Glufs*21 - g.85282494C>A - 146+1G>T - CHM_000114 hemizygous; Aberrant splicing that causes exon 2 skipping at mRNA level PubMed: Esposito 2011 - - Germline - - +AflII;+SmlI;+MseI; 0 - Francesco Salvatore
+/. - c.116+1G>T pathogenic r.116_117del p.? - g.85282494C>A - - - CHM_000114 - - - - Germline - - - 0 - Kerry Goetz
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