Full data view for gene SCN5A

Information The variants shown are described using the NM_198056.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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     

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Owner     
?/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - VUS g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ - - LQT3 - F61.537U 3-generation family, 3 carriers (1M, 2F) - - Netherlands - - - - - 3 Hideki Itoh
?/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - VUS g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ - - LQT3 - F61.537T 3-generation family, 4 carriers (1M, 3F) - - Netherlands - - - - - 4 Hideki Itoh
?/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - VUS g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ - - LQT3 - F61.537S 3-generation family, 13 carriers (9M, 4F) - - Netherlands - - - - - 13 Hideki Itoh
?/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - VUS g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ - - LQT3 - F61.537V 3-generation family, 8 carriers (2M, 6F) - - Netherlands - - - - - 8 Hideki Itoh
?/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - VUS g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ - - LQT3 - F75.324C 3-generation family, 5 carriers (3M, 2F) ? - Netherlands - - - - - 5 Hideki Itoh
?/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - VUS g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ - - LQT3 - F75.324A 3-generation family, 16 carriers (7M, 9F) - - Netherlands - - - - - 16 Hideki Itoh
?/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - VUS g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ - - LQT3 - F75.324B 3-generation family, 4 carriers (1M, 3F) - - Netherlands - - - - - 4 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ - - LQT3 - F61.537A 3-generation family, 5 carriers (2M, 3F) - - Netherlands - - - - - 5 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537B 3-generation family, 9 carriers (7M, 2F) - - Netherlands - - - - - 9 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537C 3-generation family, 5 carriers (2M, 3F) - - Netherlands - - - - - 5 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537D 2-generation family, 2 carriers (1M, 1F) - - Netherlands - - - - - 2 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537E 3-generation family, 10 carriers (5M, 5F) - - Netherlands - - - - - 10 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537F 2-generation family, 2 carriers (1M, 1F) - - Netherlands - - - - - 2 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537G 3-generation family, 4 carriers (3M, 1F) - - Netherlands - - - - - 4 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537I 2-generation family, 4 carriers (1M, 3F) - - Netherlands - - - - - 4 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537Y 2-generation family, 4 carriers (1M, 3F) - - Netherlands - - - - - 4 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537K 3-generation family, 5 carriers (2M, 3F) - - Netherlands - - - - - 5 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537L 2-generation family, 2 carriers (1M, 1F) - - Netherlands - - - - - 2 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537N 3-generation family, 3 carriers (2M, 1F) - - Netherlands - - - - - 3 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537O 3-generation family, 9 carriers (6M, 3F) - - Netherlands - - - - - 9 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537P 3-generation family, 8 carriers (2M, 6F) - - Netherlands - - - - - 8 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537Q 3-generation family, 6 carriers (4M, 2F) - - Netherlands - - - - - 6 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Parent #1 - pathogenic g.38592477_38592479dup g.38550986_38550988dup - - SCN5A_000032 - - - - Germline - - - - - DNA SEQ leukocyte - LQT3 - F61.537R 3-generation family, 3 carriers (2M, 1F) - - Netherlands - - - - - 3 Hideki Itoh
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Unknown - pathogenic g.38592477_38592479dup g.38550986_38550988dup 553tinsTGA (1795insD) - SCN5A_000032 data from Inherited Arrhythmias web site PubMed: Bezzina 1999 - - Germline - - - - - DNA SEQ - - ? 10590249-Fam1 PubMed: Bezzina 1999 6-generation family, 52 affecteds (32F, 20M) F;M - Netherlands - - - - - 52 Johan den Dunnen
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Unknown - pathogenic g.38592477_38592479dup g.38550986_38550988dup 5385insTGA - SCN5A_000032 data from Inherited Arrhythmias web site PubMed: Bezzina 1999 - - Germline - - - - - DNA SEQ - - ? 10590249-? PubMed: Bezzina 1999 data from Inherited Arrhythmias web site - - Netherlands - - - - - 1 Johan den Dunnen
+/. 28 c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Unknown - pathogenic g.38592477_38592479dup g.38550986_38550988dup 5385insTGA - SCN5A_000032 data from Inherited Arrhythmias web site PubMed: Van Langen 2003 - - Germline - - - - - DNA SEQ - - ? 12566525-? PubMed: Van Langen 2003 data from Inherited Arrhythmias web site - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Unknown - pathogenic g.38592477_38592479dup g.38550986_38550988dup SCN5A(NM_001099404.2):c.5385_5387dupTGA (p.Y1795_E1796insD), SCN5A(NM_198056.3):c.5385_5387dupTGA (p.Y1795_E1796insD) - SCN5A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5385_5387dup r.(?) p.(Tyr1795_Glu1796insAsp) Unknown - pathogenic g.38592477_38592479dup g.38550986_38550988dup SCN5A(NM_001099404.2):c.5385_5387dupTGA (p.Y1795_E1796insD), SCN5A(NM_198056.3):c.5385_5387dupTGA (p.Y1795_E1796insD) - SCN5A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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