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166872115 A/G: c.3550+2T>C: Splicing

Reference genomes Human GRCh37/hg19
Genomic position 166872115
Ref/Alt A/G
Genbank transcript ID NM_001165963.1
cds change c.3550+2T>C
cds alteration type Intronic splicing donor
Zygosis Heterozygous
AA change -
AA alteration type Splicing
Detection methods Unknown
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Intron17
Protein Domain DIIDIII linker
Inheritance Unknown
Variant Classification Uncertain significance
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases
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)