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166848297 G/A: c.5488C>T: p.Gln1830*: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166848297
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5488C>T
cds alteration type Nonsense
Zygosis Compound Heterozygous
AA change p.Gln1830*
AA alteration type Truncation
Detection methods
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 SMEI
Gender Female
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Compound variant (1/2)
References Rilstone, Jennifer J., et al. "Dravet syndrome: seizure control and gait in adults with different SCN1A mutations." Epilepsia 53.8 (2012): 1421-1428.
co-existing variant(s) 166911140 GC/-: c.602+7_8del: Splicing