Full data view for gene MYO5A

Information The variants shown are described using the NM_000259.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Technique     

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Disease     

ID_report     

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Owner     
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - epilepsy - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 JPT/HANā€HapMap sample F - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Both (homozygous) - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - VUS g.52643564G>A g.52351367G>A - - MYO5A_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.3736C>T r.(?) p.(Arg1246Cys) Unknown - benign g.52643564G>A g.52351367G>A MYO5A(NM_000259.3):c.3736C>T (p.R1246C) - MYO5A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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