The UMD-APC mutations database
Mutation c.IVS5+32C>T (c.645+32C>T)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Cryptic Donor?
ACAgcgaag
41.6 _
ACAgtgaag
68.5 _ *
39.2 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDAPCMLH1MSH2MSH6MUTYH
19_16325---16325.001-----
19_17507---17507.001-----
19_18015---18015.001-----
19_19581---19581.001-----
19_19668---19668.001c.3386T>C (p.Leu1129Ser)----
19_20906---20906.001-----
19_20909---20909.001-----
19_20972---20972.001-----
19_21781---21781-001c.3602C>A (p.Ser1201X)
c.638G>A (p.Arg213Gln)
c.3691C>G (p.Leu1231Val)
c.7201C>T (p.Leu2401Leu)
----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Co-occurrenceAPC: c.3602C>A, p.Ser1201X22/07/1319
Co-occurrenceAPC: c.3927_3931del19/09/1319
Allele frequencyPresence of unaffected adult homozygotes18/09/1319
Co-occurrenceMSH6: c.1574_1578dup, Leu527Cysfs*518/09/1319


Biological significanceDate Comment
Neutral18/09/13---