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166848474 T/A: c.5311A>T: p.Ile1771Phe: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848474
Ref/Alt T/A
Genbank transcript ID NM_001165963.1
cds change c.5311A>T
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Ile1771Phe
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 DIVS6
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Focal epilepsy
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 5 months old
Short descriptions for Cases
References Okumura, A., et al. "Focal epilepsy resulting from a de novo SCN1A mutation." Neuropediatrics 38.05 (2007): 253-256.
co-existing variant(s)