<<BACK

166848185 A/G: c.5600T>C: p.Ile1867Thr: Missense

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)