Full data view for gene SAMD12

Information The variants shown are described using the NM_001101676.1 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamA PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamB PubMed: Cen 2019 5-generation family, 14 affected (5F, 9M) F;M - China Han - - - - 14 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamC PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamD PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamF PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamG PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamH PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamI PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamJ PubMed: Cen 2019 3-generation family, 4 affected (F, 3M) F;M - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamK PubMed: Cen 2019 - - - China Han - - - - 4 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamL PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamM PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamN PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamO PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamP PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamQ PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamR PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. 4i c.(463+12612_463+12758)inN[(600_?)] TTTTA[25_80]TTTCA[105_?] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(119379041_119379187)insN[(600_?)] g.(118366802_118366948)insN[(600_?)] - - SAMD12_000011 - PubMed: Cen 2019 - - Germline yes - - - - DNA PCRrp, PCRlr - - FAME FamS PubMed: Cen 2019 - - - China Han - - - - 1 Johan den Dunnen
+/. - c.463+12642_463+12744TTTTA[(10_100)]TTTCA[(10_100)] TTTTA[?]TTTCA[?][110] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.119379055_119379157TGAAA[(10_100)]TAAAA[(10_100)] g.118366816_118366918TGAAA[(10_100)]TAAAA[(10_100)] - - SAMD12_000010 - PubMed: Lei 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam4PatII8 PubMed: Lei 2019 - F - China - - - - no treatment 1 Johan den Dunnen
+/. - c.463+12642_463+12744TTTTA[(10_110)]TTTCA[(10_110)] TTTTA[?]TTTCA[?][120] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.119379055_119379157TGAAA[(10_110)]TAAAA[(10_110)] g.118366816_118366918TGAAA[(10_110)]TAAAA[(10_110)] - - SAMD12_000007 - PubMed: Lei 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam1PatIV2 PubMed: Lei 2019 - M - China - - - - no treatment 1 Johan den Dunnen
+/. - c.463+12642_463+12744TTTTA[(10_110)]TTTCA[(10_110)] TTTTA[?]TTTCA[?][120] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.119379055_119379157TGAAA[(10_110)]TAAAA[(10_110)] g.118366816_118366918TGAAA[(10_110)]TAAAA[(10_110)] - - SAMD12_000007 - PubMed: Lei 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam1PatIV3 PubMed: Lei 2019 - M - China - - - - no treatment 1 Johan den Dunnen
+/. - c.463+12642_463+12744TTTTA[(10_110)]TTTCA[(10_110)] TTTTA[?]TTTCA[?][120] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.119379055_119379157TGAAA[(10_110)]TAAAA[(10_110)] g.118366816_118366918TGAAA[(10_110)]TAAAA[(10_110)] - - SAMD12_000007 - PubMed: Lei 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam5PatII5 PubMed: Lei 2019 - M - China - - - - treatment sodium valproate effective (except for myoclonic tremor), carbamazepin 1 Johan den Dunnen
+/. - c.463+12642_463+12744TTTTA[(10_120)]TTTCA[(10_120)] TTTTA[?]TTTCA[?][130] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.119379055_119379157TGAAA[(10_120)]TAAAA[(10_120)] g.118366816_118366918TGAAA[(10_120)]TAAAA[(10_120)] - - SAMD12_000009 - PubMed: Lei 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam2PatIII1 PubMed: Lei 2019 - M - China - - - - treatment sodium valproate effective (except for myoclonic tremor), clonazepam 1 Johan den Dunnen
+/. - c.463+12642_463+12744TTTTA[(10_120)]TTTCA[(10_120)] TTTTA[?]TTTCA[?][130] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.119379055_119379157TGAAA[(10_120)]TAAAA[(10_120)] g.118366816_118366918TGAAA[(10_120)]TAAAA[(10_120)] - - SAMD12_000009 - PubMed: Lei 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam4PatII4 PubMed: Lei 2019 4-generation family, 2 affected (2F) F - China - - - - treatment sodium valproate effective (except for myoclonic tremor), clonazepam, Quetiapine 2 Johan den Dunnen
+/. - c.463+12642_463+12744TTTTA[(10_130)]TTTCA[(10_130)] TTTTA[?]TTTCA[?][140] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.119379055_119379157TGAAA[(10_130)]TAAAA[(10_130)] g.118366816_118366918TGAAA[(10_130)]TAAAA[(10_130)] - - SAMD12_000006 - PubMed: Lei 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam1PatIII8 PubMed: Lei 2019 4-generation family, 8 affected (5F, 3M) F - China - - - - treatment sodium valproate effective (except for myoclonic tremor), clonazepam, Arotinolol, Paroxetine 8 Johan den Dunnen
+/. - c.463+12642_463+12744TTTTA[(10_130)]TTTCA[(10_130)] TTTTA[?]TTTCA[?][140] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.119379055_119379157TGAAA[(10_130)]TAAAA[(10_130)] g.118366816_118366918TGAAA[(10_130)]TAAAA[(10_130)] - - SAMD12_000006 - PubMed: Lei 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam1PatIII9 PubMed: Lei 2019 - F - China - - - - treatment sodium valproate effective (except for myoclonic tremor), clonazepam 1 Johan den Dunnen
+/. - c.463+12642_463+12744TTTTA[(10_90)]TTTCA[(10_90)] TTTTA[?]TTTCA[?][100] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.119379055_119379157TGAAA[(10_90)]TAAAA[(10_90)] g.118366816_118366918TGAAA[(10_90)]TAAAA[(10_90)] - - SAMD12_000008 - PubMed: Lei 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam2PatII1 PubMed: Lei 2019 4-generation family, 7 affected (4F, 3M) M - China - - - - treatment sodium valproate effective (except for myoclonic tremor) 7 Johan den Dunnen
+/. - c.463+12642_463+12744TTTTA[(10_90)]TTTCA[(10_90)] TTTTA[?]TTTCA[?][100] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.119379055_119379157TGAAA[(10_90)]TAAAA[(10_90)] g.118366816_118366918TGAAA[(10_90)]TAAAA[(10_90)] - - SAMD12_000008 - PubMed: Lei 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam5PatI2 PubMed: Lei 2019 4-generation family, 3 affected (2F, M) F - China - - - - treatment sodium valproate effective (except for myoclonic tremor) 3 Johan den Dunnen
+/. - c.463+12642_463+12744TTTTA[(10_90)]TTTCA[(10_90)] TTTTA[?]TTTCA[?][100] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.119379055_119379157TGAAA[(10_90)]TAAAA[(10_90)] g.118366816_118366918TGAAA[(10_90)]TAAAA[(10_90)] - - SAMD12_000008 - PubMed: Lei 2019 - - Germline yes - - - - DNA PCRrp - - FAME Fam5PatII2 PubMed: Lei 2019 - F - China - - - - treatment Arotinolol 1 Johan den Dunnen
+/. - c.463+12642_463+12744TTTTA[40_?]TTTCA[100_?] TTTTA[40_?]TTTCA[100_?] r.(=) p.(=) Unknown - pathogenic (dominant) g.119379055_119379157TGAAA[(100_?)]TAAAA[(40_?)] - - - SAMD12_000012 - - - - Germline yes - - - - DNA PCRrp - - FAME1;FMCTE1 - - - - - - - - - - - 1 Melanie Bahlo
+/. 4i c.463+12642_463+12744TTTTA[exp]TTTCA[exp] TTTTA[exp]TTTCA[exp] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.119379055_119379157TGAAA[exp]TAAAA[exp] g.118366816_118366918TGAAA[exp]TAAAA[exp] - - SAMD12_000005 - PubMed: Ishiura 2018 - - Germline - - - - - DNA PCRrp, SEQ, Southern - - FAME families PubMed: Ishiura 2018 79 patients from 47 families F;M - Japan - - - - - 79 Johan den Dunnen
+/. 4i c.463+12642_463+12744TTTTA[221]TTTCA[225]TTTTA[81] TTTTA[221]TTTCA[225]TTTTA[81] r.(=) p.(=) Maternal (confirmed) - pathogenic g.119379055_119379157TAAAA[81]TGAAA[225]TAAAA[221] g.118366816_118366918TAAAA[81]TGAAA[225]TAAAA[221] - - SAMD12_000004 - PubMed: Ishiura 2018 - - Germline yes - - - - DNA SEQ-ON - - FAME FamF6115PatII1 PubMed: Ishiura 2018 2-generation family, affected mother and 2 daughters F no Japan - - - - - 3 Johan den Dunnen
+/. 4i c.463+12642_463+12744TTTTA[598]TTTCA[458] TTTTA[598]TTTCA[458] r.(=) p.(=) Paternal (confirmed) - pathogenic g.119379055_119379157TGAAA[458]TAAAA[598] g.118366816_118366918TGAAA[458]TAAAA[598] - - SAMD12_000003 sequencing of PCR products/cloned sequences gave different expansions, only single molecule sequencing gave accurate data PubMed: Ishiura 2018 - - Germline - - - - - DNA SEQ-ON - - FAME FamF6906PatII6 PubMed: Ishiura 2018 2-generation family, affected father and 4 sibs (2F, 3M), PatII6 M no Japan - - - - - 5 Johan den Dunnen
-/- 4i c.463+12642_463+12744TTTTA[7]TTA[1]TTTTA[13] TTTTA[7]TTA[1]TTTTA[13] r.(=) p.(=) Unknown - benign g.119379055_119379157= g.118366816_118366918TAAAA[13]TAA[1]TAAAA[7] - - SAMD12_000002 repeat structure reference genome - - - Germline - - - - - DNA SEQ - - Healthy/Control control - - - - - - - - - - 1 Johan den Dunnen
?/. - c.464-54885T>G - r.(=) p.(=) Unknown - VUS g.119264856A>C g.118252617A>C - - SAMD12_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.