Unique variants in the ATG16L1 gene

Information The variants shown are described using the NM_030803.6 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 5 - c.210-2825C>T - r.(=) p.(=) - - g.233260305C>T - Boon Pin Kee et al. (2020), dbSNP ATG16L1_000003 rs6758317 7/20, 1/20, 9/27, 14/38, 3/38 - Nuur Athirah Binti Mohd Daud
+/. 6 - c.898A>G - r.(?) p.(Thr300Ala) - ClinVar g.233274722A>G - Boon Pin Kee et al. (2020), dbSNP, (OMIM 0001), ClinVar ATG16L1_000001 rs2241880 11/20, 5/20, 14/27, 1/27, 22/38, 11/38 - Nuur Athirah Binti Mohd Daud
+/. 6 - c.1430+462G>A - r.(=) p.(=) - - g.233290815G>A - Boon Pin Kee et al. (2020), dbSNP ATG16L1_000002 rs6754677 8/20, 15/27, 4/27, 19/38, 16/38 - Nuur Athirah Binti Mohd Daud
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