Variant #0000003034 (NC_000010.11:g.49625636G>C, NM_020549.4:c.916G>C (CHAT))

Individual ID 00000769
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.49625636G>C
Published as -
Reference Joo-San Tan et al.(2016)
DB-ID CHAT_000001 See all 2 reported entries
dbSNP ID -
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 09:38:53 +08:00 (CST)
Date last edited 2021-08-01 13:22:56 +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 +/. 7 c.916G>C - r.(?) p.(Val306Leu) Uncertain significance​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000863 DNA DGGE;PCR;SEQ CHAT 2 Nur Aisyah Athirah