Variant #0000001369 (NC_000002.12:g.233290815G>A, NC_000002.12(NM_030803.6):c.1430+462G>A (ATG16L1))

Individual ID 00000284
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.233290815G>A
Published as -
Reference Boon Pin Kee et al. (2020), dbSNP
DB-ID ATG16L1_000002 See all 6 reported entries
dbSNP ID rs6754677
Frequency 15/27
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-20 16:52:15 +08:00 (CST)
Date last edited 2021-08-29 17:24:48 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
ATG16L1 NM_030803.6 +/. - c.1430+462G>A - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000299 DNA TaqMan ATG16L1 5 Nuur Athirah Binti Mohd Daud