166870379 T/-: c.3580delA: p.Ile1194Serfs*14: Truncation

Reference genomes Human GRCh37/hg19
Genomic position 166870379
Ref/Alt T/-
Genbank transcript ID NM_001165963.1
cds change c.3580delA
cds alteration type Frame shift indels
Zygosis Heterozygous
AA change p.Ile1194Serfs*14
AA alteration type Truncation
Detection methods PCR-Sanger, WES, RFLP
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon18
Protein Domain DIIDIII linker
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Dravet syndrome
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset 6 months old
Short descriptions for Cases Corrected c.3547delA; I1183fs; Proband has also OR10H2 variant (G392A; R131H) and MTMR11 variant (1528insT; L511fs)
References Veeramah, Krishna R., et al. "Exome sequencing reveals new causal mutations in children with epileptic encephalopathies." Epilepsia 54.7 (2013): 1270-1281.
co-existing variant(s)