Unique variants in gene MAX

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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.-30C>G r.(=) p.(=) g.65569087G>C - MAX_000017 - - - - Despoina Kalfakakou
./. 4 - c.25G>T r.(?) p.(Val9Leu) g.65569033C>A - MAX_000001 - - - - Despoina Kalfakakou
./. 1 - c.37-16T>C r.(=) p.(=) g.65568306A>G - MAX_000002 - - - - Despoina Kalfakakou
./. 1 - c.37-15T>C r.(=) p.(=) g.65568305A>G - MAX_000007 - - - - Despoina Kalfakakou
./. 1 - c.37-12C>T r.(=) p.(=) g.65568302G>A - MAX_000016 - - - - Despoina Kalfakakou
./. 1 - c.87T>C r.(=) p.(=) g.65560510A>G - MAX_000011 - - - - Despoina Kalfakakou
./. 2 - c.171+36A>G r.(=) p.(=) g.65560390T>C - MAX_000010 - - - - Despoina Kalfakakou
./. 1 - c.171+41C>T r.(=) p.(=) g.65560385G>A - MAX_000009 - - - - Despoina Kalfakakou
./. 1 - c.172-48G>T r.(=) p.(=) g.65544802C>A - MAX_000006 - - - - Despoina Kalfakakou
./. 1 - c.177C>G r.(=) p.(=) g.65544749G>C - MAX_000013 - - - - Despoina Kalfakakou
./. 1 - c.269G>A r.(?) p.(Arg90Gln) g.65544657C>T - MAX_000014 - - - - Despoina Kalfakakou
./. 1 - c.295+6C>T r.(=) p.(=) g.65544625G>A - MAX_000005 - - - - Despoina Kalfakakou
./. 1 - c.295+39G>A r.(=) p.(=) g.65544592C>T - MAX_000004 - - - - Despoina Kalfakakou
./. 1 - c.341A>G r.(?) p.(Asn114Ser) g.65543336T>C - MAX_000008 - - - - Despoina Kalfakakou
./. 1 - c.375C>T r.(=) p.(=) g.65543302G>A - MAX_000012 - - - - Despoina Kalfakakou
./. 1 - c.386G>A r.(?) p.(Ser129Asn) g.65543291C>T - MAX_000015 - - - - Despoina Kalfakakou
./. 1 - c.*35_*38del r.(=) p.(=) g.65543156_65543159del - MAX_000003 - - - - Despoina Kalfakakou
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