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.

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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     
+/+ _1_2i c.(?_-30)_(116+1_117-1)dup;c.1167-?_1510+?dup pathogenic r.0 p.0 - g.? - 1-?_146+?dup;1197-?_1540+?dup - CHM_000350 hemizygous; Noncontiguous duplication of exons 1-2 and 9-12 PubMed: Edwards TL 2017 - - Germline - - - 0 - David Baux
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