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166848476 A/T: c.5309T>A: p.Ile1770Asn: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848476
Ref/Alt A/T
Genbank transcript ID NM_001165963.1
cds change c.5309T>A
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Ile1770Asn
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 Unknown
Variant Classification Uncertain significance
Clinical diagnosis Epilepsy
Gender Male
Ethnogenesis Unknown
Family history Paternal grandfather: seizures
Age of seizure onset 3 months old
Short descriptions for Cases
References Tang, Shan, et al. "Encephalopathy and SCN1A mutations." Epilepsia 52.4 (2011).
co-existing variant(s)