Unique variants in the MSX1 gene

Information The variants shown are described using the NM_002448.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/? 1 1 c.577C>T - r.(?) p.(Gln193*) - ClinVar g.4862808C>T - Salahshourifar I; et al. (2011)dbSNP MSX1_000001 rs104893850 - - MyHVP
+/. 1 1 c.597C>T - r.(=) p.(=) - - g.4862828C>T - 1 more item MSX1_000005 rs748717884 - - Nur Aisyah Athirah
+/. 2 1 c.599C>T - r.(?) p.(Ala200Val) - Uncertain significance g.4862830C>T - 1 more item MSX1_000004 rs1346748006 - - Nur Aisyah Athirah
+/. 2 1 c.730C>A c.730G>A r.(?) p.(Pro244Thr) - - g.4862961C>A, g.4862961G>A - 1 more item MSX1_000006 rs74040399 - - Nur Aisyah Athirah
+/. 1 1 c.731C>A c.731G>A r.(?) p.(Pro244His) - - g.4862962C>A c.731G>A - MSX1_000002 rs28933382 2 - Nuur Athirah Binti Mohd Daud
+/. 3 1 c.732C>A c.732G>A r.(=) p.(=) - - g.4862963C>A, g.4862963G>A c.732G>A 1 more item MSX1_000003 rs779274456 1 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
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