Unique variants in the MYOC gene

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     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 2 - c.730+35G>C - r.(=) p.(=) - - g.171638562C>G IVS2 730+35G>A Z Mimivati et al. (2014), dbSNP MYOC_000002 rs2032555 22/32, 5/32 - Nuur Athirah Binti Mohd Daud
+/. 2 3 c.1440C>A - r.(?) p.(Asn480Lys) - ClinVar g.171636000G>T - Z Mimivati et al. (2014), dbSNP, (OMIM 0006), ClinVar MYOC_000001 rs74315332 25/32, 5/32 - Nuur Athirah Binti Mohd Daud
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