Full data view for gene MYO6


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_004999.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 19 c.1975C>T r.(?) p.(Arg659*) Motor domain (57-771) Paternal (confirmed) - pathogenic g.76580394C>T g.75870677C>T - - MYO6_000008 Heterozygous PubMed: Miyagawa et al., 2013 - - Germline - 1/144 controls - 0 - DNA SEQ, SEQ-NG-S - - DFNA - PubMed: Miyagawa et al., 2013 proband F - Japan - - 0 - - 1 Anne-Françoise Roux
+/+ 19 c.1975C>T r.(?) p.(Arg659*) Motor domain (57-771) Paternal (confirmed) - pathogenic g.76580394C>T g.75870677C>T - - MYO6_000008 Heterozygous PubMed: Miyagawa et al., 2013 - - Germline - 1/144 controls - 0 - DNA SEQ - - DFNA - PubMed: Miyagawa et al., 2013 relative M - Japan - - 0 - - 1 Anne-Françoise Roux
+/+ 19 c.1975C>T r.(?) p.(Arg659*) Motor domain (57-771) Unknown - pathogenic g.76580394C>T g.75870677C>T - - MYO6_000008 Heterozygous PubMed: Miyagawa et al., 2013 - - Germline - 1/144 controls - 0 - DNA SEQ - - DFNA - PubMed: Miyagawa et al., 2013 relative M - Japan - - 0 - - 1 Anne-Françoise Roux
+/. - c.1975C>T r.(?) p.(Arg659Ter) - Unknown - pathogenic g.76580394C>T g.75870677C>T - - MYO6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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