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) |
|