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.

1 entry on 1 page. Showing entry 1.
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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     
?/? 3i c.190-14T>G VUS r.(?) p.(?) - g.85233909A>C - 220-14T>G - CHM_000013 hemizygous; The pathogenicity of this mutation is uncertain as RT-PCR did not give abnormal mRNA. PubMed: van Bokhoven 1994 - - Germline - - - 0 - David Baux
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