| Reference genomes |
Human GRCh37/hg19 |
| Genomic position |
166848185 |
| Ref/Alt |
A/G |
| Genbank transcript ID |
NM_001165963.1 |
| cds change |
c.5600T>C |
| cds alteration type |
Non-synonymous |
| Zygosis |
Heterozygous |
| AA change |
p.Ile1867Thr |
| AA alteration type |
Missense |
| Detection methods |
Unknown |
| Known variant |
Unknown |
| Reference ID |
. |
| MAF in 1000G |
. |
| MAF in ExAC |
. |
| MAF in genomAD |
. |
| Exon/Intron |
Exon26 |
| Protein Domain |
C-terminus |
| Inheritance |
Inherited |
| Variant Classification |
Likely pathogenic |
| Clinical diagnosis |
GEFS+, Sudden unexpected death in epilepsy |
| Gender |
Female |
| Ethnogenesis |
Unknown |
| Family history |
Son: Febrile and afebrile seizures; Brother: Febrile and afebrile seizures; Sister: Febrile and afebriles seizures; Niece: Febrile and afebrile seizures, unexpected death in epilepsy |
| Age of seizure onset |
5 months old |
| Short descriptions for Cases |
|
| References |
Hindocha, Neeti, et al. "Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation." Epilepsia 49.2 (2008): 360-365. |
| co-existing variant(s) |
|
