Variant #0000003035 (NC_000010.11:g.49664906delTCT, NM_020549.4:c.2107delTCT (CHAT))

Individual ID 00000768
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.49664906delTCT
Published as -
Reference Joo-San Tan et al.(2016)
DB-ID CHAT_000002 See all 2 reported entries
dbSNP ID rs750942168
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-07-08 09:42:22 +08:00 (CST)
Date last edited 2021-08-01 13:22:47 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
CHAT NM_020549.4 +/. 16 c.2107delTCT - r.(?) p.(Ser705del) Uncertain significance​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000862 DNA DGGE;PCR;SEQ CHAT 2 Nur Aisyah Athirah