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     
+/+ 2i_9i c.(116+1_117-1)_(1244+1_1245-1)del pathogenic r.? p.? - g.(85156194_85166265)_(85236814_85282494)del - 147-?_1274+?del - CHM_000102 hemizygous PubMed: Jacobson 2006 - - Germline - - - 0 - David Baux
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