Full data view for gene SCN4A

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

95 entries on 1 page. Showing entries 1 - 95.
Legend   How to query  

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     
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - HOKPP - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - myotonia congenita (AR) - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - myotonia congenita (AR) - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - myotonia congenita (AR) - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - myotonia congenita (AR) - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - myotonia congenita (AR) - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - myotonia congenita (AR) - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - PMC - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Paternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Maternal (confirmed) - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Leiden, unpublished - - Germline - - - - - DNA SEQ - - ? - Leiden, unpublished - - - Netherlands - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Bendahhou [2000] - - Germline - - - - - DNA SEQ - - ? - Bendahhou [2000] enhancement of slow inactivation. The steady state fast inactivation curve shifted towards hyperpolarizing. The double mutation cancels out the two effects. The patients showed variable myotonia. - - - - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Ptácek [1991] - - Germline - - - - - DNA SEQ - - PMC - Ptácek [1991] unusually severe interattac weakness - - - - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Sasaki [1999] - - Germline - - - - - DNA SEQ - - ? - Sasaki [1999] The proband (IV-2) was a 16-year-old girl who began to experience muscle stiffness that affected her face and limbs in a cold environment, such as being outdoors in the winter (approximately 5°C-10°C), at the age of 4 years. She also experienced stiffness - - - - - - - - 1 Vincent Janmaat
-/- 8i c.1242+105G>C r.(?) p.(=) Unknown - benign g.62043357C>G g.63965997C>G - - SCN4A_000014 - Tsujino [2003] - - Germline - - - - - DNA SEQ - - ? - Tsujino [2003] A 20-year-old normokalemic woman had abrupt attacks of respiratory and bulbar paralysis since birth lasting 3?30 min recurring one to three times per month. Since infancy, she has been on an apnea monitor and received ventilatory support during apneic att - - - - - - - - 1 Vincent Janmaat
Legend   How to query  


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