All variants in the CHAT gene

Information The variants shown are described using the NM_020549.4 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 7 c.916G>C - r.(?) p.(Val306Leu) Uncertain significance g.49625636G>C - Joo-San Tan et al.(2016) CHAT_000001 - - - Nur Aisyah Athirah
+/. 7 c.916G>C - r.(?) p.(Val306Leu) Uncertain significance​ g.49625636G>C - Joo-San Tan et al.(2016) CHAT_000001 - - - Nur Aisyah Athirah
+/. 16 c.2107delTCT - r.(?) p.(Ser705del) Uncertain significance​ g.49664906delTCT - Joo-San Tan et al.(2016) CHAT_000002 rs750942168 - - Nur Aisyah Athirah
+/. 16 c.2107delTCT - r.(?) p.(Ser704del) Uncertain significance​ g.49664906delTCT - Joo-San Tan et al.(2016) CHAT_000002 rs750942168 - - Nur Aisyah Athirah
Legend   How to query