Unique variants in gene AFG3L2

Information The variants shown are described using the NM_006796.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.292+1721T>C - - g.12369128A>G - AFG3L2_000005 rs7228252 0.8176 88 233 Admin
./. 1 - c.552+699C>A - - g.12366266G>T - AFG3L2_000004 rs11659516 0.1162 41 19 Admin
./. 1 - c.627+830T>G r.(=) p.(=) g.12362952A>C - AFG3L2_000003 rs9956171 0.2309 126 15 Admin
./. 1 - c.627+1563G>A - - g.12362219C>T - AFG3L2_000002 rs3786261 0.1676 92 11 Admin
./. 1 - c.627+1836G>A - - g.12361946C>T - AFG3L2_000001 rs17595308 0.0794 36 9 Admin
./. 1 - c.628-471G>A - - g.12360522C>T - AFG3L2_000007 rs8093888 0.9574 17 316 Admin
./. 1 - c.1553-1062G>A r.(=) p.(=) g.12349445C>T - AFG3L2_000006 rs7235296 0.7118 137 173 Admin
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