Full data view for gene PPP2R5D

Information The variants shown are described using the NM_006245.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.592G>A r.(?) p.(Glu198Lys) Unknown ACMG pathogenic g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - HJS1;MRD35 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
+/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic g.42975003G>A g.43007265G>A PPP2R5D(NM_006245.3):c.592G>A (p.(Glu198Lys)), PPP2R5D(NM_006245.4):c.592G>A (p.E198K) - PPP2R5D_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - likely pathogenic g.42975003G>A g.43007265G>A PPP2R5D(NM_006245.3):c.592G>A (p.(Glu198Lys)), PPP2R5D(NM_006245.4):c.592G>A (p.E198K) - PPP2R5D_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.592G>A r.(?) p.(Glu198Lys) Unknown ACMG likely pathogenic (dominant) g.42975003G>A g.43007265G>A NM_180977.2:c.274G>A - PPP2R5D_000003 ACMG PS2,PM2,PP3 PubMed: Anazi 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 15DG0837 PubMed: Anazi 2017 simplex case F - - - - - - - 1 Johan den Dunnen
+/. - c.592G>A r.(?) p.(Glu198Lys) Unknown ACMG pathogenic (dominant) g.42975003G>A - - - PPP2R5D_000003 ACMG Class 5 (PS2, PS4_MOD, PS3_SUP, PM2, PP3) PMID: 25533962; PMID: 25972378; PMID: 26168268 VCV000190286.15 - De novo ? - - - - DNA SEQ-NG-I - - HJS1;MRD35 163496 - - F - Hungary - - - - - 1 Andreas Laner
+/. 5 c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic (dominant) g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2604.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic (dominant) g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? COG1744 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic g.42975003G>A - PPP2R5D(NM_006245.3):c.592G>A (p.(Glu198Lys)), PPP2R5D(NM_006245.4):c.592G>A (p.E198K) - PPP2R5D_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: Salinas 2020 VCV000190286.8 - Unknown - - - - - DNA SEQ-NG - WES ? Pat85 PubMed: Salinas 2020 patient F - - - - - - - 1 Johan den Dunnen
+/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic (dominant) g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - - - - De novo - - - - - DNA SEQ-NG - - HJS1;MRD35 - - - - - - - - - - - 1 Min Peng
+/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic (dominant) g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: Loveday 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES OGS COG1744 PubMed: Loveday 2015 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic (dominant) g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: Houge 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ID Pat2 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic (dominant) g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: Houge 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ID Pat3 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic (dominant) g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: Houge 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ID Pat4 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic (dominant) g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: Houge 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ID Pat5 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic (dominant) g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: Houge 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ID Pat6 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic (dominant) g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: Houge 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ID Pat7 PubMed: Houge 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.592G>A r.(?) p.(Glu198Lys) Unknown - pathogenic (dominant) g.42975003G>A g.43007265G>A - - PPP2R5D_000003 - PubMed: Zech 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - solo WES DYT IS-DYS-402 PubMed: Zech 2020 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
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