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166848229 C/CA: c.5555_5556insT: p.Met1852Ilefs*9: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848229
Ref/Alt C/CA
Genbank transcript ID NM_001165963.1
cds change c.5555_5556insT
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Met1852Ilefs*9
AA alteration type Truncation
Detection methods PCR-Sanger, MLPA
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis Intractable Epilepsy
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
References Wang, Ji-wen, et al. "Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy." Epilepsy research 102.3 (2012): 195-200.
co-existing variant(s)