Full data view for gene SCN4A

Information The variants shown are described using the NM_000334.4 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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     
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Paternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Maternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Paternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Maternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Paternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - HYPP - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Maternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - HYPP - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Paternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Maternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - myotonia congenita (AR) - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Paternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Maternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Paternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Maternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Paternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Maternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Paternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Maternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Paternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Maternal (confirmed) - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Bendahhou [1999] - - Germline - - - - - DNA SEQ - - ? - Bendahhou [1999] The mutation disrupted the macroscopic current inactivation decay and shifted both steady-state activation and inactivation to the hyperpolarizing direction. The recovery from fast inactivation was slowed, and there was no effect on channel deactivation. - - - - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Bulman [1997] - - Germline - - - - - DNA SEQ - - ? - Bulman [1997] - - - - - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Ren [2006] - - Germline - - - - - DNA SEQ - - ? - Ren [2006] autosomal dominant disorder characterized by episodic attacks of paralysis with different severity. - - - - - - - - 1 Vincent Janmaat
-/- 17i c.3318+12C>A r.(?) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 - Wu [2005] - - Germline - - - - - DNA SEQ - - ? - Wu [2005] Fast inactivation was impaired for F1705I channels, A 49-year-old Caucasian man of Polish heritage complained of frequent stiffness and cramps in the arms and legs. Symptoms had been present for 15 years and were aggravated by cold weather. Muscle stiffne - - - - - - - - 1 Vincent Janmaat
-/. - c.3318+12C>A r.(=) p.(=) Unknown - benign g.62025238G>T g.63947878G>T - - SCN4A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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