Full data view for gene PSEN1

Information The variants shown are described using the NM_000021.3 transcript reference sequence.

487 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.21G>A r.(?) p.(Pro7=) Unknown - likely benign g.73614748G>A g.73148040G>A PSEN1(NM_000021.3):c.21G>A (p.P7=) - PSEN1_000415 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.(96T>C) r.(?) p.(=) Unknown - VUS g.72707266T>C g.72240558T>C - - PSEN1_000209 Observed in 1 AD patient. /r/Silent point mutation in coding region - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.104G>A r.(?) p.(Arg35Gln) Unknown - VUS g.73637521G>A g.73170813G>A - - PSEN1_000204 - - - - Germline - - - - - DNA SEQ-NG - - PD - - - - - Norway - - - - - 1 Zafar Iqbal
-/- 4 c.104G>A r.(?) p.(Arg35Gln) Unknown - benign g.73637521G>A g.73170813G>A - - PSEN1_000204 This mutation does not segregate with disease in 1 family segregating the PSEN1 E120D mutation and was identified in one African control individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Geno. /r/Point mutation in coding region predicting an amino acid substitution"" - - rs63750592 Unknown no - - - - DNA ? - - AD - PubMed: Rogaeva EA 2001 - - - - - - - - - 1 Marc Cruts
-/- 4 c.104G>A r.(?) p.(Arg35Gln) Unknown - benign g.73637521G>A g.73170813G>A - - PSEN1_000204 This mutation does not segregate with disease in 1 family segregating the PSEN1 E120D mutation and was identified in one African control individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Geno. /r/Point mutation in coding region predicting an amino acid substitution"" - - rs63750592 Unknown no - - - - DNA ? - - AD - - Does not segregate with disease. This family segregates PSEN1 E120D mutation - - - - - - - - 4 Marc Cruts
-?/. - c.104G>A r.(?) p.(Arg35Gln) Unknown - likely benign g.73637521G>A g.73170813G>A PSEN1(NM_000021.3):c.104G>A (p.R35Q) - PSEN1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.118_120del r.(?) p.(Asp40del) Unknown - likely benign g.73637535_73637537del - PSEN1(NM_000021.4):c.118_120del (p.(Asp40del)) - PSEN1_000426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124C>T r.(?) p.(Arg42Trp) Unknown - VUS g.73637541C>T - PSEN1(NM_000021.4):c.124C>T (p.(Arg42Trp)) - PSEN1_000427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234C>T r.(?) p.(Gly78=) Unknown - likely benign g.73637651C>T g.73170943C>T PSEN1(NM_000021.3):c.234C>T (p.G78=), PSEN1(NM_000021.4):c.234C>T (p.G78=) - PSEN1_000416 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234C>T r.(?) p.(Gly78=) Unknown - likely benign g.73637651C>T g.73170943C>T PSEN1(NM_000021.3):c.234C>T (p.G78=), PSEN1(NM_000021.4):c.234C>T (p.G78=) - PSEN1_000416 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.236C>T r.(?) p.(Ala79Val) Unknown - pathogenic g.73637653C>T g.73170945C>T - - PSEN1_000215 Point mutation in coding region predicting an amino acid substitution - - rs63749824 Unknown yes - - - - DNA ? - - AD - PubMed: Cruts M 1998 - - - Netherlands white - - - - 1 Marc Cruts
+/+ 4 c.236C>T r.(?) p.(Ala79Val) Unknown - pathogenic g.73637653C>T g.73170945C>T - - PSEN1_000215 Point mutation in coding region predicting an amino acid substitution - - rs63749824 Unknown no - - - - DNA ? - - AD - PubMed: Cruts M 1998 - - - Netherlands white - - - - 1 Marc Cruts
+/+ 4 c.236C>T r.(?) p.(Ala79Val) Unknown - pathogenic g.73637653C>T g.73170945C>T - - PSEN1_000215 Point mutation in coding region predicting an amino acid substitution - - rs63749824 Unknown no - - - - DNA ? - - AD - PubMed: Cruts M 1998 - - - Netherlands white - - - - 1 Marc Cruts
+/+ 4 c.236C>T r.(?) p.(Ala79Val) Unknown - pathogenic g.73637653C>T g.73170945C>T - - PSEN1_000215 Point mutation in coding region predicting an amino acid substitution - - rs63749824 Unknown no - - - - DNA ? - - AD - PubMed: Finckh U 2000 - - - Germany white - - - - 2 Marc Cruts
+/+ 4 c.236C>T r.(?) p.(Ala79Val) Unknown - pathogenic g.73637653C>T g.73170945C>T - - PSEN1_000215 Point mutation in coding region predicting an amino acid substitution - - rs63749824 Unknown no - - - - DNA ? - - AD - PubMed: Rogaeva EA 2001 - - - - - - - - - 1 Marc Cruts
+/+ 4 c.236C>T r.(?) p.(Ala79Val) Unknown - pathogenic g.73637653C>T g.73170945C>T - - PSEN1_000215 Point mutation in coding region predicting an amino acid substitution - - rs63749824 Unknown no - - - - DNA ? - - AD - PubMed: Rogaeva EA 2001 - - - - - - - - - 1 Marc Cruts
+/+ 4 c.236C>T r.(?) p.(Ala79Val) Unknown - pathogenic g.73637653C>T g.73170945C>T - - PSEN1_000215 Point mutation in coding region predicting an amino acid substitution - - rs63749824 Unknown no - - - - DNA ? - - AD - PubMed: Miravalle L 2002 - - - - - - - - - 1 Marc Cruts
+/+ 4 c.236C>T r.(?) p.(Ala79Val) Unknown - pathogenic g.73637653C>T g.73170945C>T - - PSEN1_000215 Point mutation in coding region predicting an amino acid substitution - - rs63749824 Unknown yes - - - - DNA ? - - AD - - Mutation present in 3 patients but absent from 1 affected individual - - - - - - - - 1 Marc Cruts
+/. - c.236C>T r.(?) p.(Ala79Val) Unknown - pathogenic g.73637653C>T g.73170945C>T PSEN1(NM_000021.3):c.236C>T (p.A79V), PSEN1(NM_000021.4):c.236C>T (p.A79V) - PSEN1_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.236C>T r.(?) p.(Ala79Val) Unknown - pathogenic g.73637653C>T - PSEN1(NM_000021.3):c.236C>T (p.A79V), PSEN1(NM_000021.4):c.236C>T (p.A79V) - PSEN1_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.244G>C r.(?) p.(Val82Leu) Unknown - pathogenic g.73637661G>C g.73170953G>C - - PSEN1_000216 Point mutation in coding region predicting an amino acid substitution - - rs63749967 Unknown no - - - - DNA ? - - AD - PubMed: Campion D 1995 PubMed: Campion D 1999 - - - France white - - - - 3 Marc Cruts
+/+ 4 c.247_252del r.(?) p.(Ile83_Met84del) Unknown - pathogenic g.73637664_73637669del g.73170956_73170961del - - PSEN1_000217 Hexanucleotide deletion resulting in deletion of 2 amino acids - - rs63750307 Unknown no - - - - DNA ? - - AD3 - PubMed: Steiner H 2001 PubMed: Houlden H 2000 - - - Scotland white 44y - - - 5 Marc Cruts
+/+ 4 c.(254T>C) r.(?) p.(Leu85Pro) Unknown - pathogenic g.73637671T>C g.73170963T>C - - PSEN1_000218 Point mutation in coding region predicting an amino acid substitution - - rs63750599 Unknown no - - - - DNA ? - - AD3 - - De novo mutation or non-paternity? - - Japan Asian - - - - 1 Marc Cruts
+/+ 4 c.(265G>T) r.(?) p.(Val89Leu) Unknown - pathogenic g.73637682G>T g.73170974G>T - - PSEN1_000219 Point mutation in coding region predicting an amino acid substitution - - rs63750815 Unknown yes - - - - DNA ? - - ?, AD - PubMed: Queralt R 2002 PubMed: Lleo A 2002 - - - Spain white 59y - - - 3 Marc Cruts
+/+ 4 c.(275G>C) r.(?) p.(Cys92Ser) Unknown - pathogenic g.73637692G>C g.73170984G>C - - PSEN1_000220 Point mutation in coding region predicting an amino acid substitution - - rs63751141 Unknown no - - - - DNA ? - - AD - PubMed: Sorbi S 2002 - - - Italy white 76y - - - 2 Marc Cruts
+/+ 4 c.(275G>C) r.(?) p.(Cys92Ser) Unknown - pathogenic g.73637692G>C g.73170984G>C - - PSEN1_000220 Point mutation in coding region predicting an amino acid substitution - - rs63751141 Unknown no - - - - DNA ? - - AD - PubMed: Sorbi S 2002 - - - Italy white - - - - 3 Marc Cruts
+/+ 4 c.(280G>A) r.(?) p.(Val94Met) Unknown - pathogenic g.73637697G>A g.73170989G>A - - PSEN1_000221 Point mutation in coding region predicting an amino acid substitution - - rs63750831 Unknown no - - - - DNA ? - - AD - PubMed: Jacquier M 2000 PubMed: Arango D 2001 - - - Colombia Hispanic - - - - 1 Marc Cruts
+/+ 4 c.286G>T r.(?) p.(Val96Phe) Unknown - pathogenic g.73637703G>T g.73170995G>T - - PSEN1_000222 Point mutation in coding region predicting an amino acid substitution - - rs63750601 Unknown yes - - - - DNA ? - - AD - PubMed: Kamino K 1996 - - - Japan Asian - - - - 1 Marc Cruts
+/+ 4 c.(289G>T) r.(?) p.(Val97Leu) Unknown - pathogenic g.73637706G>T g.73170998G>T - - PSEN1_000223 Point mutation in coding region predicting an amino acid substitution - - rs63750852 Unknown yes - - - - DNA ? - - AD - - - - - China Asian - - - - 1 Marc Cruts
+/+ 4 c.(313T>A) r.(?) p.(Phe105Ile) Unknown - pathogenic g.73637730T>A g.73171022T>A - - PSEN1_000224 Point mutation in coding region predicting an amino acid substitution - - rs63750325 Unknown no - - - - DNA ? - - AD - - - - - - - - - - - 3 Marc Cruts
+/+ 4 c.(313T>G) r.(?) p.(Phe105Val) Unknown - pathogenic g.73637730T>G g.73171022T>G - - PSEN1_000225 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - AD - - - - - Spain white - - - - 1 Marc Cruts
+/+ 4 c.(315T>G) r.(?) p.(Phe105Leu) Unknown - pathogenic g.73637732T>G g.73171024T>G - - PSEN1_000226 Point mutation in coding region predicting an amino acid substitution - - rs63750321 Unknown no - - - - DNA ? - - AD - PubMed: Finckh U 2000 - - - Germany white 60y06m - - - 2 Marc Cruts
+?/. - c.337C>T r.(?) p.(Leu113=) Unknown - likely pathogenic g.73637754C>T g.73171046C>T PSEN1 L109L - PSEN1_000425 - PubMed: Miszalski-Jamka 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - LVNC Pat122 PubMed: Miszalski-Jamka 2017 case solved - - - - - - - - 1 Johan den Dunnen
+/+ 4 c.(338T>A) r.(?) p.(Leu113Gln) Unknown - pathogenic g.73637755T>A g.73171047T>A - - PSEN1_000228 Point mutation in coding region predicting an amino acid substitution - - rs63751399 Unknown no - - - - DNA ? - - ?, AD - - - - - Greece white 35y07m - - - 1 Marc Cruts
+/+ 4 c.338T>C r.(?) p.(Leu113Pro) Unknown - pathogenic g.73637755T>C g.73171047T>C - - PSEN1_000227 Point mutation in coding region predicting an amino acid substitution - - rs63751399 Unknown yes - - - - DNA ? - - AD, FTD - PubMed: Raux G 2000 - - - France white 50y - - - 5 Marc Cruts
+/+ 4 c.338+1del r.[338_339insTAC;170_338del;88_338del] - Unknown - pathogenic g.73637756del g.73171048del - - PSEN1_000229 Point mutation in splice donor consensus site of intron 4 resulting in 3 different transcripts with a single-codon insertion, partial and complete deletion of exon 4 respectively, the latter 2 resulting in a frame-shift and premature stop codon. - - rs63751475 Unknown no - - - - DNA ? - - AD - PubMed: Tysoe C 1998 PubMed: De Jonghe C 1999 - - - United Kingdom (Great Britain) white 45y - - - 1 Marc Cruts
+/+ 4 c.338+1del r.[338_339insTAC;170_338del;88_338del] - Unknown - pathogenic g.73637756del g.73171048del - - PSEN1_000229 Point mutation in splice donor consensus site of intron 4 resulting in 3 different transcripts with a single-codon insertion, partial and complete deletion of exon 4 respectively, the latter 2 resulting in a frame-shift and premature stop codon. - - rs63751475 Unknown no - - - - DNA ? - - AD - PubMed: Tysoe C 1998 PubMed: De Jonghe C 1999 - - - United Kingdom (Great Britain) white 40y - - - 1 Marc Cruts
+/+ 4 c.338+1del r.[338_339insTAC;170_338del;88_338del] - Unknown - pathogenic g.73637756del g.73171048del - - PSEN1_000229 Point mutation in splice donor consensus site of intron 4 resulting in 3 different transcripts with a single-codon insertion, partial and complete deletion of exon 4 respectively, the latter 2 resulting in a frame-shift and premature stop codon. - - rs63751475 Unknown no - - - - DNA ? - - AD - PubMed: De Jonghe C 1999 - - - United Kingdom (Great Britain) white 42y - - - 1 Marc Cruts
+/+ 4 c.338+1del r.[338_339insTAC;170_338del;88_338del] - Unknown - pathogenic g.73637756del g.73171048del - - PSEN1_000229 Point mutation in splice donor consensus site of intron 4 resulting in 3 different transcripts with a single-codon insertion, partial and complete deletion of exon 4 respectively, the latter 2 resulting in a frame-shift and premature stop codon. - - rs63751475 Unknown no - - - - DNA ? - - AD - PubMed: De Jonghe C 1999 - - - United Kingdom (Great Britain) white 41y - - - 1 Marc Cruts
+/+ 4 c.338+1del r.[338_339insTAC;170_338del;88_338del] - Unknown - pathogenic g.73637756del g.73171048del - - PSEN1_000229 Point mutation in splice donor consensus site of intron 4 resulting in 3 different transcripts with a single-codon insertion, partial and complete deletion of exon 4 respectively, the latter 2 resulting in a frame-shift and premature stop codon. - - rs63751475 Unknown yes - - - - DNA ? - - AD - PubMed: De Jonghe C 1999 - - - United Kingdom (Great Britain) white - - - - 1 Marc Cruts
+/+ 4 c.338+1del r.[338_339insTAC;170_338del;88_338del] - Unknown - pathogenic g.73637756del g.73171048del - - PSEN1_000229 Point mutation in splice donor consensus site of intron 4 resulting in 3 different transcripts with a single-codon insertion, partial and complete deletion of exon 4 respectively, the latter 2 resulting in a frame-shift and premature stop codon. - - rs63751475 Unknown yes - - - - DNA ? - - AD - PubMed: De Jonghe C 1999 - - - United Kingdom (Great Britain) white - - - - 1 Marc Cruts
+/+ 4 c.338+1del r.[338_339insTAC;170_338del;88_338del] - Unknown - pathogenic g.73637756del g.73171048del - - PSEN1_000229 Point mutation in splice donor consensus site of intron 4 resulting in 3 different transcripts with a single-codon insertion, partial and complete deletion of exon 4 respectively, the latter 2 resulting in a frame-shift and premature stop codon. - - rs63751475 Unknown no - - - - DNA ? - - AD - PubMed: Rogaeva EA 2001 - - - - - - - - - 1 Marc Cruts
+/+ 4 c.338+1del r.[338_339insTAC;170_338del;88_338del] - Unknown - pathogenic g.73637756del g.73171048del - - PSEN1_000229 Point mutation in splice donor consensus site of intron 4 resulting in 3 different transcripts with a single-codon insertion, partial and complete deletion of exon 4 respectively, the latter 2 resulting in a frame-shift and premature stop codon. - - rs63751475 Unknown no - - - - DNA ? - - AD - PubMed: Janssen JC 2002 PubMed: Janssen JC 2003 - - - United Kingdom (Great Britain) white - - - - 1 Marc Cruts
+/+ 4 c.338+1del r.[338_339insTAC;170_338del;88_338del] - Unknown - pathogenic g.73637756del g.73171048del - - PSEN1_000229 Point mutation in splice donor consensus site of intron 4 resulting in 3 different transcripts with a single-codon insertion, partial and complete deletion of exon 4 respectively, the latter 2 resulting in a frame-shift and premature stop codon. - - rs63751475 Unknown no - - - - DNA ? - - AD - PubMed: Janssen JC 2002 PubMed: Janssen JC 2003 - - - United Kingdom (Great Britain) white - - - - 1 Marc Cruts
+/. - c.338+1del r.spl? p.? Unknown - pathogenic g.73637756del g.73171048del PSEN1(NM_000021.4):c.338+1delG - PSEN1_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.343T>C r.(?) p.(Tyr115His) Unknown - pathogenic g.73640278T>C g.73173570T>C - - PSEN1_000230 Point mutation in coding region predicting an amino acid substitution - - rs63749962 Unknown no - - - - DNA ? - - AD - PubMed: Campion D 1995 PubMed: Campion D 1999 - - - France white - - - - 2 Marc Cruts
+/+ 5 c.343T>C r.(?) p.(Tyr115His) Unknown - pathogenic g.73640278T>C g.73173570T>C - - PSEN1_000230 Point mutation in coding region predicting an amino acid substitution - - rs63749962 Unknown no - - - - DNA ? - - AD - PubMed: Campion D 1999 - - - France white - - - - 3 Marc Cruts
+/+ 5 c.343T>C r.(?) p.(Tyr115His) Unknown - pathogenic g.73640278T>C g.73173570T>C - - PSEN1_000230 Point mutation in coding region predicting an amino acid substitution - - rs63749962 Unknown no - - - - DNA ? - - ?, AD - - - - - Germany white 41y06m - - - 1 Marc Cruts
+/+ 5 c.343T>C r.(?) p.(Tyr115His) Unknown - pathogenic g.73640278T>C g.73173570T>C - - PSEN1_000230 Point mutation in coding region predicting an amino acid substitution - - rs63749962 Unknown no - - - - DNA ? - - AD - - - - - - white - - - - 1 Marc Cruts
+/+ 5 c.(344A>G) r.(?) p.(Tyr115Cys) Unknown - pathogenic g.73640279A>G g.73173571A>G - - PSEN1_000231 Point mutation in coding region predicting an amino acid substitution - - rs63750450 Unknown yes - - - - DNA ? - - AD - PubMed: Cruts M 1998 - - - Netherlands white - - - - 1 Marc Cruts
+/+ 5 c.(344A>G) r.(?) p.(Tyr115Cys) Unknown - pathogenic g.73640279A>G g.73173571A>G - - PSEN1_000231 Point mutation in coding region predicting an amino acid substitution - - rs63750450 Unknown no - - - - DNA ? - - AD - PubMed: Rogaeva EA 2001 - - - - - - - - - 1 Marc Cruts
+/+ 5 c.(344A>G) r.(?) p.(Tyr115Cys) Unknown - pathogenic g.73640279A>G g.73173571A>G - - PSEN1_000231 Point mutation in coding region predicting an amino acid substitution - - rs63750450 Unknown no - - - - DNA ? - - AD - PubMed: Janssen JC 2002 PubMed: Janssen JC 2003 - - - United Kingdom (Great Britain) white - - - - 5 Marc Cruts
+/+ 5 c.(344A>G) r.(?) p.(Tyr115Cys) Unknown - pathogenic g.73640279A>G g.73173571A>G - - PSEN1_000231 Point mutation in coding region predicting an amino acid substitution - - rs63750450 Unknown no - - - - DNA ? - - AD - - - - - - - 55y - - - 2 Marc Cruts
+/. - c.344A>G r.(?) p.(Tyr115Cys) Unknown - pathogenic g.73640279A>G g.73173571A>G PSEN1(NM_000021.3):c.344A>G (p.Y115C) - PSEN1_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.347C>A r.(?) p.(Thr116Asn) Unknown - pathogenic g.73640282C>A g.73173574C>A - - PSEN1_000232 Point mutation in coding region predicting an amino acid substitution - - rs63750730 Unknown yes - - - - DNA ? - - AD - PubMed: Romero I 1999 - - - Denmark white 43y09m - - - 4 Marc Cruts
+/+ 5 c.347C>A r.(?) p.(Thr116Asn) Unknown - pathogenic g.73640282C>A g.73173574C>A - - PSEN1_000232 Point mutation in coding region predicting an amino acid substitution - - rs63750730 Unknown no - - - - DNA ? - - AD - PubMed: Rogaeva EA 2001 - - - - - - - - - 1 Marc Cruts
+/+ 5 c.347C>A r.(?) p.(Thr116Asn) Unknown - pathogenic g.73640282C>A g.73173574C>A - - PSEN1_000232 Point mutation in coding region predicting an amino acid substitution - - rs63750730 Unknown no - - - - DNA ? - - AD - - - - - - - - - - - 4 Marc Cruts
+/+ 5 c.347C>A r.(?) p.(Thr116Asn) Unknown - pathogenic g.73640282C>A g.73173574C>A - - PSEN1_000232 Point mutation in coding region predicting an amino acid substitution - - rs63750730 Unknown no - - - - DNA ? - - AD - - Iberia - - - white - - - - 1 Marc Cruts
+/+ 5 c.347C>T r.(?) p.(Thr116Ile) Unknown - pathogenic g.73640282C>T g.73173574C>T - - PSEN1_000233 Point mutation in coding region predicting an amino acid substitution - - rs63750730 Unknown no - - - - DNA ? - - AD - - - - - - - - - - - 1 Marc Cruts
+/+ 5 c.347C>T r.(?) p.(Thr116Ile) Unknown - pathogenic g.73640282C>T g.73173574C>T - - PSEN1_000233 Point mutation in coding region predicting an amino acid substitution - - rs63750730 Unknown no - - - - DNA ? - - AD - - - - - - - - - - - 4 Marc Cruts
+/+ 5 c.(349C>G) r.(?) p.(Pro117Ala) Unknown - pathogenic g.73640284C>G g.73173576C>G - - PSEN1_000235 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - DNA ? - - AD - - - - - Colombia Hispanic - - - - 3 Marc Cruts
+/+ 5 c.(349C>G) r.(?) p.(Pro117Ala) Unknown - pathogenic g.73640284C>G g.73173576C>G - - PSEN1_000235 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - DNA ? - - ?, AD - - - - - - - 35y - - - 3 Marc Cruts
+/+ 5 c.(349C>T) r.(?) p.(Pro117Ser) Unknown - pathogenic g.73640284C>T g.73173576C>T - - PSEN1_000234 Point mutation in coding region predicting an amino acid substitution - - rs63750550 Unknown yes - - - - DNA ? - - AD - PubMed: Dowjat K 2002 - - - United States white 43y06m - - - 3 Marc Cruts
+/+ 5 c.(350C>G) r.(?) p.(Pro117Arg) Unknown - pathogenic g.73640285C>G g.73173577C>G - - PSEN1_000237 Point mutation in coding region predicting an amino acid substitution - - rs63749805 Unknown no - - - - DNA ? - - ?, AD - - - - - Poland white - - - - 1 Marc Cruts
+/+ 5 c.(350C>G) r.(?) p.(Pro117Arg) Unknown - pathogenic g.73640285C>G g.73173577C>G - - PSEN1_000237 Point mutation in coding region predicting an amino acid substitution - - rs63749805 Unknown no - - - - DNA ? - - AD - - - - - Spain white 40y - - - 5 Marc Cruts
+/+ 5 c.(350C>T) r.(?) p.(Pro117Leu) Unknown - pathogenic g.73640285C>T g.73173577C>T - - PSEN1_000236 Point mutation in coding region predicting an amino acid substitution - - rs63749805 Unknown yes - - - - DNA ? - - AD - PubMed: Wisniewski T 1998 - - - Poland white 33y04m - - - 4 Marc Cruts
+/+ 5 c.(350C>T) r.(?) p.(Pro117Leu) Unknown - pathogenic g.73640285C>T g.73173577C>T - - PSEN1_000236 Point mutation in coding region predicting an amino acid substitution - - rs63749805 Unknown no - - - - DNA ? - - AD - - De novo mutation: both parents were free of symptoms and mutation. Paternity was confirmed by microsatellite genotyping - - - - - - - - 1 Marc Cruts
+/+ 5 c.(358G>A) r.(?) p.(Glu120Lys) Unknown - pathogenic g.73640293G>A g.73173585G>A - - PSEN1_000238 Point mutation in coding region predicting an amino acid substitution - - rs63750800 Unknown yes - - - - DNA ? - - AD - PubMed: Hutton M 1996 - - - United Kingdom (Great Britain); Ireland white - - - - 6 Marc Cruts
+/+ 5 c.(358G>A) r.(?) p.(Glu120Lys) Unknown - pathogenic g.73640293G>A g.73173585G>A - - PSEN1_000238 Point mutation in coding region predicting an amino acid substitution - - rs63750800 Unknown no - - - - DNA ? - - AD - - - - - - - - - - - 1 Marc Cruts
+/+ 5 c.(359A>G) r.(?) p.(Glu120Gly) Unknown - pathogenic g.73640294A>G g.73173586A>G - - PSEN1_000239 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - DNA ? - - AD - - - - - Spain white 42y - - - 4 Marc Cruts
+/+ 5 c.(360A>C) r.(?) p.(Glu120Asp) Unknown - pathogenic g.73640295A>C g.73173587A>C - - PSEN1_000241 Point mutation in coding region predicting an amino acid substitution - - rs63751272 Unknown yes - - - - DNA ? - - AD - PubMed: Poorkaj P 1998 - - - United Kingdom (Great Britain) white - - - - 9 Marc Cruts
+/+ 5 c.(360A>C) r.(?) p.(Glu120Asp) Unknown - pathogenic g.73640295A>C g.73173587A>C - - PSEN1_000241 Point mutation in coding region predicting an amino acid substitution - - rs63751272 Unknown no - - - - DNA ? - - AD - PubMed: Campion D 1999 - - - France white - - - - 4 Marc Cruts
+/+ 5 c.(360A>C) r.(?) p.(Glu120Asp) Unknown - pathogenic g.73640295A>C g.73173587A>C - - PSEN1_000241 Point mutation in coding region predicting an amino acid substitution - - rs63751272 Unknown no - - - - DNA ? - - AD - - - - - - - - - - - 4 Marc Cruts
+/+ 5 c.(360A>T) r.(?) p.(Glu120Asp) Unknown - pathogenic g.73640295A>T g.73173587A>T - - PSEN1_000240 Point mutation in coding region predicting an amino acid substitution - - rs63751272 Unknown yes - - - - DNA ? - - AD - PubMed: Reznik-Wolf H 1996 PubMed: Reznik-Wolf H 1996 - - - - Romania;Jewish 55y - - - 4 Marc Cruts
+/+ 5 c.(367G>A) r.(?) p.(Glu123Lys) Unknown - pathogenic g.73640302G>A g.73173594G>A - - PSEN1_000242 Point mutation in coding region predicting an amino acid substitution - - rs63750378 Unknown yes - - - - DNA ? - - AD - PubMed: Yasuda M 1999 - - - Japan Asian 60y06m - - - 2 Marc Cruts
+/+ 5 c.(403A>G) r.(?) p.(Asn135Asp) Unknown - pathogenic g.73640338A>G g.73173630A>G - - PSEN1_000243 Point mutation in coding region predicting an amino acid substitution - - rs63750353 Unknown no - - - - DNA ? - - AD - PubMed: Crook R 1997 - - - - - - - - - 1 Marc Cruts
+/+ 5 c.(404A>G) r.(?) p.(Asn135Ser) Unknown - pathogenic g.73640339A>G g.73173631A>G - - PSEN1_000244 Point mutation in coding region predicting an amino acid substitution - - rs63751278 Unknown yes - - - - DNA ? - - AD, epilepsy - - - - - Greece white 39y - - - 3 Marc Cruts
+/+ 5 c.(404A>G) r.(?) p.(Asn135Ser) Unknown - pathogenic g.73640339A>G g.73173631A>G - - PSEN1_000244 Point mutation in coding region predicting an amino acid substitution - - rs63751278 Unknown yes - - - - DNA ? - - AD3 - - - - - - white 38y06m - - - 3 Marc Cruts
?/. 5 c.404A>G r.(?) p.(Asn135Ser) Unknown - VUS g.73640339A>G g.73173631A>G - - PSEN1_000244 - PubMed: Ganapathy 2019 ClinVar-RCV000084303.1 rs63751278 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3551 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/+ 5 c.(407C>G) r.(?) p.(Ala136Gly) Unknown - pathogenic g.73640342C>G g.73173634C>G - - PSEN1_000245 Point mutation in coding region predicting an amino acid substitution - - rs41345849 Unknown no - - - - DNA ? - - AD - - - - - China Asian - - - - 1 Marc Cruts
+/+ 5 c.415A>G r.(?) p.(Met139Val) Unknown - pathogenic g.73640350A>G g.73173642A>G - - PSEN1_000246 Point mutation in coding region predicting an amino acid substitution - - rs63751037 Unknown yes - - - - DNA ? - - AD - PubMed: Hutton M 1996 PubMed: Clark RF 1995 PubMed: Fox NC 1997 PubMed: Palmer MS 1999 - - - United Kingdom (Great Britain); Ireland white 51y - - - 6 Marc Cruts
+/+ 5 c.415A>G r.(?) p.(Met139Val) Unknown - pathogenic g.73640350A>G g.73173642A>G - - PSEN1_000246 Point mutation in coding region predicting an amino acid substitution - - rs63751037 Unknown yes - - - - DNA ? - - AD - PubMed: Hutton M 1996 PubMed: Clark RF 1995 PubMed: Fox NC 1997 PubMed: Palmer MS 1999 - - - United Kingdom (Great Britain); Ireland white 44y02m - - - 7 Marc Cruts
+/+ 5 c.415A>G r.(?) p.(Met139Val) Unknown - pathogenic g.73640350A>G g.73173642A>G - - PSEN1_000246 Point mutation in coding region predicting an amino acid substitution - - rs63751037 Unknown no - - - - DNA ? - - AD - PubMed: Boteva K 1996 - - - - - - - - - 1 Marc Cruts
+/+ 5 c.415A>G r.(?) p.(Met139Val) Unknown - pathogenic g.73640350A>G g.73173642A>G - - PSEN1_000246 Point mutation in coding region predicting an amino acid substitution - - rs63751037 Unknown no - - - - DNA ? - - AD - PubMed: Sandbrink R 1996 - - - - - - - - - 1 Marc Cruts
+/+ 5 c.415A>G r.(?) p.(Met139Val) Unknown - pathogenic g.73640350A>G g.73173642A>G - - PSEN1_000246 Point mutation in coding region predicting an amino acid substitution - - rs63751037 Unknown no - - - - DNA ? - - AD - PubMed: Finckh U 2000 - - - Germany white - - - - 1 Marc Cruts
+/+ 5 c.415A>G r.(?) p.(Met139Val) Unknown - pathogenic g.73640350A>G g.73173642A>G - - PSEN1_000246 Point mutation in coding region predicting an amino acid substitution - - rs63751037 Unknown no - - - - DNA ? - - AD - PubMed: Hüll M 1998 - - - Germany white 50y04m - - - 3 Marc Cruts
+/+ 5 c.415A>G r.(?) p.(Met139Val) Unknown - pathogenic g.73640350A>G g.73173642A>G - - PSEN1_000246 Point mutation in coding region predicting an amino acid substitution - - rs63751037 Unknown no - - - - DNA ? - - AD - PubMed: Larner AJ 2003 - - - - white - - - - 1 Marc Cruts
+/+ 5 c.415A>G r.(?) p.(Met139Val) Unknown - pathogenic g.73640350A>G g.73173642A>G - - PSEN1_000246 Point mutation in coding region predicting an amino acid substitution - - rs63751037 Unknown yes - - - - DNA ? - - AD, FTD - - MAPT A178T not segregating with disease - - United States African American 49y - - - 2 Marc Cruts
+/+ 5 c.415A>G r.(?) p.(Met139Val) Unknown - pathogenic g.73640350A>G g.73173642A>G - - PSEN1_000246 Point mutation in coding region predicting an amino acid substitution - - rs63751037 Unknown no - - - - DNA ? - - AD - - - - - Poland white - - - - 2 Marc Cruts
+/+ 5 c.(416T>A) r.(?) p.(Met139Lys) Unknown - pathogenic g.73640351T>A g.73173643T>A - - PSEN1_000248 Point mutation in coding region predicting an amino acid substitution - - rs63751106 Unknown no - - - - DNA ? - - AD - PubMed: Dumanchin C 1998 - - - France white 47y - - - 1 Marc Cruts
+/+ 5 c.416T>C r.(?) p.(Met139Thr) Unknown - pathogenic g.73640351T>C g.73173643T>C - - PSEN1_000247 Point mutation in coding region predicting an amino acid substitution - - rs63751106 Unknown no - - - - DNA ? - - AD - PubMed: Campion D 1995 PubMed: Campion D 1999 - - - France white - - - - 2 Marc Cruts
+/+ 5 c.416T>C r.(?) p.(Met139Thr) Unknown - pathogenic g.73640351T>C g.73173643T>C - - PSEN1_000247 Point mutation in coding region predicting an amino acid substitution - - rs63751106 Unknown yes - - - - DNA ? - - AD - PubMed: Queralt R 2001 PubMed: Lleo A 2002 - - - Spain white - - - - 2 Marc Cruts
+/+ 5 c.416T>C r.(?) p.(Met139Thr) Unknown - pathogenic g.73640351T>C g.73173643T>C - - PSEN1_000247 Point mutation in coding region predicting an amino acid substitution - - rs63751106 Unknown no - - - - DNA ? - - AD - PubMed: Lleo A 2002 - - - Spain white 54y01m - - - 1 Marc Cruts
+/+ 5 c.(417G>A) r.(?) p.(Met139Ile) Unknown - pathogenic g.73640352G>A g.73173644G>A - - PSEN1_000249 Point mutation in coding region predicting an amino acid substitution - - rs63750522 Unknown no - - - - DNA ? - - AD - PubMed: Boteva K 1996 - - - - - - - - - 1 Marc Cruts
+/+ 5 c.(417G>C) r.(?) p.(Met139Ile) Unknown - pathogenic g.73640352G>C g.73173644G>C - - PSEN1_000250 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - AD - - - - - Korea Asian 45y - - - 3 Marc Cruts
+?/. 5 c.418A>T r.(?) p.(Ile140Phe) Unknown - likely pathogenic g.73640353A>T g.73173645A>T - - PSEN1_000208 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - AD3 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/+ 5 c.(427A>G) r.(?) p.(Ile143Val) Unknown - pathogenic g.73640362A>G g.73173654A>G - - PSEN1_000252 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - AD - - - - - Italy white 65y07m - - - 11 Marc Cruts
+/+ 5 c.(427A>T) r.(?) p.(Ile143Phe) Unknown - pathogenic g.73640362A>T g.73173654A>T - - PSEN1_000251 Incomplete penetrance: 1 unaffected carrier aged 68 years.. /r/Point mutation in coding region predicting an amino acid substitution - - rs63750322 Unknown no - - - - DNA ? - - AD - PubMed: Rossor MN 1996 PubMed: Palmer MS 1999 Incomplete penetrance: 1 unaffected carrier aged 68 years - - - - 65y - - - 3 Marc Cruts
+/+ 5 c.(428T>A) r.(?) p.(Ile143Asn) Unknown - pathogenic g.73640363T>A g.73173655T>A - - PSEN1_000254 Point mutation in coding region predicting an amino acid substitution - - rs63750004 Unknown no - - - - DNA ? - - AD - - - - - - - - - - - 5 Marc Cruts
+/+ 5 c.428T>C r.(?) p.(Ile143Thr) Unknown - pathogenic g.73640363T>C g.73173655T>C - - PSEN1_000253 Point mutation in coding region predicting an amino acid substitution - - rs63750004 Unknown yes - - - - DNA ? - - AD - PubMed: Cruts M 1995 - - - Belgium white 41y02m - - - 11 Marc Cruts
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