Full data view for gene MYOC

Information The variants shown are described using the NM_000261.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

Allele     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Remarks     

Microattribution     

Panel size     

Owner     
+/. 3 c.1440C>A - r.(?) p.(Asn480Lys) - ClinVar Unknown g.171636000G>T - Z Mimivati et al. (2014), dbSNP, (OMIM 0006), ClinVar MYOC_000001 rs74315332 25/32 - DNA PCR JOAG Z Mimivati et al. (2014) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.1440C>A - r.(?) p.(Asn480Lys) - ClinVar Both (homozygous) g.171636000G>T - Z Mimivati et al. (2014), dbSNP, (OMIM 0006), ClinVar MYOC_000001 rs74315332 5/32 - DNA PCR JOAG Z Mimivati et al. (2014) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
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