Full data view for gene PSMC3

Information The variants shown are described using the NM_002804.4 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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.511C>T r.(?) p.(Arg171Trp) Unknown - pathogenic (dominant) g.47445677G>A g.47424126G>A - - PSMC3_000020 - PubMed: Ebstein 2023 - rs775517283 De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.523A>G r.(?) p.(Met175Val) Unknown - pathogenic (dominant) g.47445665T>C g.47424114T>C - - PSMC3_000019 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.686C>T r.(?) p.(Pro229Leu) Unknown - pathogenic (dominant) g.47444430G>A g.47422879G>A - - PSMC3_000018 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.710C>T r.(?) p.(Ala237Val) Unknown - pathogenic (dominant) g.47444406G>A g.47422855G>A - - PSMC3_000017 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.775A>G r.(?) p.(Met259Val) Unknown - pathogenic (dominant) g.47444234T>C g.47422683T>C - - PSMC3_000016 - PubMed: Ebstein 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Ebstein 2023 family, 1 affected F - - - - - - - 1 Johan den Dunnen
+/. - c.776T>C r.(?) p.(Met259Thr) Unknown - pathogenic (dominant) g.47444233A>G g.47422682A>G - - PSMC3_000015 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.782T>C r.(?) p.(Ile261Thr) Unknown - pathogenic (dominant) g.47444227A>G g.47422676A>G - - PSMC3_000014 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.782T>C r.(?) p.(Ile261Thr) Unknown - pathogenic (dominant) g.47444227A>G g.47422676A>G - - PSMC3_000014 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.782T>C r.(?) p.(Ile261Thr) Unknown - pathogenic (dominant) g.47444227A>G g.47422676A>G - - PSMC3_000014 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.782T>C r.(?) p.(Ile261Thr) Unknown - pathogenic (dominant) g.47444227A>G g.47422676A>G - - PSMC3_000014 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat10 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.782T>C r.(?) p.(Ile261Thr) Unknown - pathogenic (dominant) g.47444227A>G g.47422676A>G - - PSMC3_000014 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat11 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.782T>C r.(?) p.(Ile261Thr) Unknown - pathogenic (dominant) g.47444227A>G g.47422676A>G - - PSMC3_000014 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.784G>A r.(?) p.(Gly262Arg) Unknown - pathogenic (dominant) g.47444225C>T g.47422674C>T - - PSMC3_000013 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat13 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.806G>C r.(?) p.(Arg269Pro) Unknown - pathogenic (dominant) g.47444203C>G g.47422652C>G - - PSMC3_000012 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat14 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.859G>C r.(?) p.(Glu287Gln) Unknown - pathogenic (dominant) g.47444150C>G g.47422599C>G - - PSMC3_000011 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat15 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 9 c.910C>G r.(?) p.(Arg304Gly) Unknown ACMG pathogenic (dominant) g.47442253G>C g.47420702G>C - - PSMC3_000006 - - ClinVar-3363101 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES autism - - - M no - white - - - - 1 Marketa Wayhelova
+/. - c.910C>G r.(?) p.(Arg304Gly) Unknown - pathogenic (dominant) g.47442253G>C g.47420702G>C - - PSMC3_000006 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat20 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.910C>T r.(?) p.(Arg304Trp) Unknown - pathogenic (dominant) g.47442253G>A g.47420702G>A - - PSMC3_000010 - PubMed: Ebstein 2023 - rs1363348500 De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat16 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.910C>T r.(?) p.(Arg304Trp) Unknown - pathogenic (dominant) g.47442253G>A g.47420702G>A - - PSMC3_000010 - PubMed: Ebstein 2023 - rs1363348500 De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat17 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.910C>T r.(?) p.(Arg304Trp) Unknown - pathogenic (dominant) g.47442253G>A g.47420702G>A - - PSMC3_000010 - PubMed: Ebstein 2023 - rs1363348500 De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat18 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.910C>T r.(?) p.(Arg304Trp) Unknown - pathogenic (dominant) g.47442253G>A g.47420702G>A - - PSMC3_000010 - PubMed: Ebstein 2023 - rs1363348500 De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat19 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.915G>T r.(?) p.(Glu305Asp) Unknown - pathogenic (dominant) g.47442248C>A g.47420697C>A - - PSMC3_000009 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat21 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.929T>C r.(?) p.(Met310Thr) Unknown - pathogenic (dominant) g.47442234A>G g.47420683A>G - - PSMC3_000008 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat22 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 10i c.1127+337A>G r.1127+1_1128-1ins1127+223_1127+336 p.Ser376Argfs15* Both (homozygous) - pathogenic (recessive) g.47441478T>C g.47419927T>C - - PSMC3_000005 - PubMed: Kröll-Hermi 2020 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS ? FamPatIII4 PubMed: Kröll-Hermi 2020 5-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives - yes Turkey - - - - - 3 Johan den Dunnen
+/. 10i c.1127+337A>G r.1127+1_1128-1ins1127+223_1127+337 p.Ser376Argfs15* Both (homozygous) - pathogenic (recessive) g.47441478T>C g.47419927T>C - - PSMC3_000005 - PubMed: Kröll-Hermi 2020 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS ? FamPatIII2 PubMed: Kröll-Hermi 2020 PatIII2 - yes Turkey - - - - - 1 Johan den Dunnen
+/. 10i c.1127+337A>G r.1127+1_1128-1ins1127+223_1127+338 p.Ser376Argfs15* Both (homozygous) - pathogenic (recessive) g.47441478T>C g.47419927T>C - - PSMC3_000005 - PubMed: Kröll-Hermi 2020 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS ? FamPatIII7 PubMed: Kröll-Hermi 2020 PatIII7 - yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.1147G>A r.(?) p.(Glu383Lys) Unknown - pathogenic (dominant) g.47440729C>T g.47419178C>T - - PSMC3_000007 - PubMed: Ebstein 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat23 PubMed: Ebstein 2023 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.*3500A>G r.(=) p.(=) Unknown - VUS g.47436886T>C - SLC39A13(NM_001128225.3):c.1088T>C (p.(Met363Thr)) - PSMC3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3679G>A r.(=) p.(=) Unknown - likely benign g.47436707C>T g.47415156C>T SLC39A13(NM_001128225.2):c.1037C>T (p.(Pro346Leu)), SLC39A13(NM_001128225.3):c.1037C>T (p.P346L) - SLC39A13_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3679G>A r.(=) p.(=) Unknown - likely benign g.47436707C>T - SLC39A13(NM_001128225.2):c.1037C>T (p.(Pro346Leu)), SLC39A13(NM_001128225.3):c.1037C>T (p.P346L) - SLC39A13_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3910C>T r.(=) p.(=) Unknown - likely benign g.47436476G>A g.47414925G>A SLC39A13(NM_001128225.3):c.919+16G>A - PSMC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3919C>T r.(=) p.(=) Unknown - likely benign g.47436467G>A g.47414916G>A SLC39A13(NM_001128225.3):c.919+7G>A - PSMC3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4354G>A r.(=) p.(=) Unknown - likely benign g.47436032C>T - SLC39A13(NM_001128225.3):c.786+6C>T - PSMC3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4408G>A r.(=) p.(=) Unknown - likely benign g.47435978C>T g.47414427C>T SLC39A13(NM_001128225.2):c.738C>T (p.(=)) - PSMC3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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