Full data view for gene CHAT

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

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     
+/. 7 c.916G>C - r.(?) p.(Val306Leu) Uncertain significance Unknown g.49625636G>C - Joo-San Tan et al.(2016) CHAT_000001 - - - DNA DGGE, PCR, SEQ CMS Joo-San Tan et al.(2016) M Sabah Kadazandusun - - - 2 Nur Aisyah Athirah
+/. 7 c.916G>C - r.(?) p.(Val306Leu) Uncertain significance​ Unknown g.49625636G>C - Joo-San Tan et al.(2016) CHAT_000001 - - - DNA DGGE, PCR, SEQ CMS Joo-San Tan et al.(2016) M Sabah Kadazandusun - - - 1 Nur Aisyah Athirah
+/. 16 c.2107delTCT - r.(?) p.(Ser705del) Uncertain significance​ Unknown g.49664906delTCT - Joo-San Tan et al.(2016) CHAT_000002 rs750942168 - - DNA DGGE, PCR, SEQ CMS Joo-San Tan et al.(2016) M Sabah Kadazandusun - - - 2 Nur Aisyah Athirah
+/. 16 c.2107delTCT - r.(?) p.(Ser704del) Uncertain significance​ Unknown g.49664906delTCT - Joo-San Tan et al.(2016) CHAT_000002 rs750942168 - - DNA DGGE, PCR, SEQ CMS Joo-San Tan et al.(2016) M Sabah Kadazandusun - - - 1 Nur Aisyah Athirah
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