Article details

Haywood et al. European Heart Journal 2013;34:1002–1011.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
TMEM435`UTRUTRc.-158A>G- 0/382 TFC+   Mutation details
TMEM431Intronicc.12+33A>G- 0/382 TFC+   Mutation details
TMEM431Intronicc.12+34G>C- 1/382 TFC+ N=2   Mutation details
TMEM432R28Wc.82C>Tp.Arg28Trp 0/380 TFC+   Mutation details
TMEM433Intronicc.163-93G>A- 0/192 TFC+   Mutation details
TMEM433P74Pc.222C>Tp.Pro74= 5/368 TFC+ N=3   Mutation details
TMEM434Intronicc.298-106C>T- 0/0 TFC+ N=33 classified as non-pathogenic Mutation details
TMEM435E142Kc.424G>Ap.Glu142Lys 2/378 TFC+ N=2   Mutation details
TMEM435Intronicc.442+51T>C- 0/0 TFC+ N=28 classified as non-pathogenic Mutation details
TMEM436Intronicc.443-48G>A- 6/384 TFC+   Mutation details
TMEM436K168Nc.504A>Tp.Lys168Asn 0/0 TFC+ classified as non-pathogenic Mutation details
TMEM436Intronicc.512+19G>T- 3/384 TFC+   Mutation details
TMEM437Intronicc.513-90G>A- 0/0 TFC+ N=26 classified as non-pathogenic Mutation details
TMEM437M179Tc.536T>Cp.Met179Thr 0/0 TFC+ N=80 classified as non-pathogenic Mutation details
TMEM438Intronicc.705+52C>G- 0/378 TFC+   Mutation details
TMEM438Splicec.705+7G>Ar.spl? 0/372 TFC+   Mutation details
TMEM438Intronicc.705+55G>A- 0/0 TFC+ N=69 classified as non-pathogenic Mutation details
TMEM4310Intronicc.781-56G>A- 0/0 TFC+ N=67 classified as non-pathogenic Mutation details
TMEM4311Intronicc.883-47C>T- 0/0 TFC+ N=48   Mutation details
TMEM4311S303Sc.909C>Tp.Ser303= 7/378 TFC+ N=2   Mutation details
TMEM4311R312Wc.934C>Tp.Arg312Trp 3/378 TFC+ N=4   Mutation details
TMEM433'UTRUTRc.*31T>C- 3/384 TFC+ N=3   Mutation details
TMEM433'UTRUTRc*719G>T- 14/384 TFC+ N=8   Mutation details
TMEM433'UTRUTRc*277C>T- 0/0 TFC+ N=12 classified as non-pathogenic Mutation details
TMEM433'UTRUTRc*779A>C- 0/0 TFC+ N=49 classified as non-pathogenic Mutation details
TMEM433'UTRUTRc*1374T>C- 0/0 TFC+ N=48 classified as non-pathogenic Mutation details
TMEM433'UTRUTRc*1424T>C- 0/0 TFC+ N=50 classified as non-pathogenic Mutation details
TMEM433'UTRUTRc*1388C>A- 0/378 TFC+   Mutation details
TMEM433'UTRUTRc*115T>C- 0/0 TFC+ N=112 classified as non-pathogenic Mutation details
TMEM433'UTRUTRc*463A>G- 0/0 TFC+ N=48 classified as non-pathogenic Mutation details
TMEM433'UTRUTRc*762*766delAAAAC- 14/384 TFC+ N=8   Mutation details
TMEM433'UTRUTRc*1290T>C- 0/378 TFC+   Mutation details