Full data view for gene PPEF1

Information The variants shown are described using the NM_006240.2 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.-225-64G>T r.(=) p.(=) Unknown - VUS g.18718388G>T g.18700269G>T - - PPEF1_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-225-64_-225-51del r.(=) p.(=) Unknown - VUS g.18718388_18718401del g.18700269_18700282del - - PPEF1_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-225-60_-225-51del r.(=) p.(=) Unknown - VUS g.18718392_18718401del g.18700273_18700282del - - PPEF1_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. _1_9i c.-481_(558+1_559-1){0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(18665453_18674772)_(18779695_18797127)del g.(18647333_18656652)_(18761577_18779009)del - - RS1_000123 136 kb deletion from PPEF intron 9 to RS1 intron 3 also involving CDKL5 (STK9) PubMed: Huopaniemi - - Germline yes - - 0 - DNA PCR, Southern - - RS1 FamRS315 PubMed: Huopaniemi 2000 family, 2 affected sibs M no Denmark - - 0 - - 2 Johan den Dunnen
?/. - c.236-15dup r.(=) p.(=) Unknown - VUS g.18767895dup g.18749777dup - - PPEF1_000025 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.397-8G>A r.(=) p.(=) Unknown - likely benign g.18775737G>A g.18757619G>A PPEF1(NM_006240.2):c.397-8G>A (p.(=)) - PPEF1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.558+27A>G r.(=) p.(=) Maternal (inferred) - VUS g.18779721A>G g.18761603A>G - - PPEF1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.558+27A>G r.(=) p.(=) Maternal (inferred) - VUS g.18779721A>G g.18761603A>G - - PPEF1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.558+165dup r.(=) p.(=) Unknown - VUS g.18779859dup g.18761741dup - - PPEF1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.558+165dup r.(=) p.(=) Unknown - VUS g.18779859dup g.18761741dup - - PPEF1_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.558+165dup r.(=) p.(=) Unknown - VUS g.18779859dup g.18761741dup - - PPEF1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.558+245A>G r.(=) p.(=) Maternal (inferred) - VUS g.18779939A>G g.18761821A>G - - PPEF1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.762+11del r.(=) p.(=) Unknown - VUS g.18800531del g.18782413del - - PPEF1_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.762+11del r.(=) p.(=) Unknown - VUS g.18800531del g.18782413del - - PPEF1_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.762+11_762+12del r.(=) p.(=) Unknown - VUS g.18800531_18800532del g.18782413_18782414del - - PPEF1_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.762+11_762+12del r.(=) p.(=) Unknown - VUS g.18800531_18800532del g.18782413_18782414del - - PPEF1_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.763-175_763-174dup r.(=) p.(=) Unknown - VUS g.18801842_18801843dup g.18783724_18783725dup - - PPEF1_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.763-175_763-174dup r.(=) p.(=) Unknown - VUS g.18801842_18801843dup g.18783724_18783725dup - - PPEF1_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.763-175_763-174dup r.(=) p.(=) Unknown - VUS g.18801842_18801843dup g.18783724_18783725dup - - PPEF1_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.763-174dup r.(=) p.(=) Unknown - VUS g.18801843dup g.18783725dup - - PPEF1_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.763-174dup r.(=) p.(=) Unknown - VUS g.18801843dup g.18783725dup - - PPEF1_000023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.763-174dup r.(=) p.(=) Unknown - VUS g.18801843dup g.18783725dup - - PPEF1_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.817A>G r.(?) p.(Ile273Val) Unknown - VUS g.18802071A>G g.18783953A>G PPEF1(NM_006240.2):c.817A>G (p.(Ile273Val)) - PPEF1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.937A>G r.(?) p.(Thr313Ala) Unknown - likely benign g.18807263A>G g.18789145A>G PPEF1(NM_006240.2):c.937A>G (p.T313A) - PPEF1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.939G>A r.(?) p.(Thr313=) Unknown - likely benign g.18807265G>A - PPEF1(NM_006240.2):c.939G>A (p.T313=) - PPEF1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1104T>C r.(?) p.(Asn368=) Unknown - likely benign g.18822048T>C g.18803930T>C PPEF1(NM_006240.2):c.1104T>C (p.N368=) - PPEF1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.1327G>A r.(?) p.(Gly443Ser) Parent #1 - VUS g.18824596G>A g.18806478G>A G443S - PPEF1_000030 recurrent, found 17 times PubMed: Tarpey 2009 - - Germline - 17/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 17 Lucy Raymond
-?/. - c.1387C>T r.(?) p.(Arg463Cys) Unknown - likely benign g.18824656C>T g.18806538C>T PPEF1(NM_006240.2):c.1387C>T (p.R463C) - PPEF1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1580C>T r.(?) p.(Ser527Leu) Unknown - likely benign g.18842119C>T g.18824001C>T PPEF1(NM_006240.2):c.1580C>T (p.(Ser527Leu)) - PPEF1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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