Full data view for gene SAMD12

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

18 entries on 1 page. Showing entries 1 - 18.
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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
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