Full data view for gene SCN4A

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

65 entries on 1 page. Showing entries 1 - 65.
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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     
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Paternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Maternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - myotonia - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - HOKPP - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - HOKPP - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - HYPP - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Paternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Maternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Paternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - myotonia congenita, atypical, acetazolamide-responsive - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Maternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - myotonia congenita, atypical, acetazolamide-responsive - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Paternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - myotonia - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Maternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - myotonia - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Paternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Maternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - HYPP - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Paternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Maternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - HYPP - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - myotonia congenita (AR) - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Paternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Maternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Paternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Maternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Paternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Maternal (confirmed) - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Koch [1995] - - Germline - - - - - DNA SEQ - - ? - Koch [1995] myotonic stifness of the face and hand following exposure to cold. - - - - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Ptácek [1992] - - Germline - - - - - DNA SEQ - - ? - Ptácek [1992] - - - - - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Guo [2004] - - Germline - - - - - DNA SEQ - - PMC - Guo [2004] The mutation V781I exists in Chinese patients with normoKPP and may be responsible for normoKPP - - - - - - - - 1 Vincent Janmaat
-/- 24 c.4539C>A r.(?) p.(Ile1513Ile) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 - Kim [2002] - - Germline - - - - - DNA SEQ - - ? - Kim [2002] The proband had cold-sensitive muscle stiffness, paradoxical myotonia, and intermittent muscle weakness since childhood. The serum level of creatine kinase was mildly elevated and short exercise test with cooling revealed a drastic reduction of compound m - - - - - - - - 1 Vincent Janmaat
-/. - c.4539C>A r.(?) p.(Ile1513=) Unknown - benign g.62019103G>T g.63941743G>T - - SCN4A_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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