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166872116 C/T: c.3550+1G>A: Splicing

Reference genomes Human GRCh37/hg19
Genomic position 166872116
Ref/Alt C/T
Genbank transcript ID NM_001165963.1
cds change c.3550+1G>A
cds alteration type Intronic splicing donor
Zygosis Heterozygous
AA change -
AA alteration type Splicing
Detection methods PCR-Sanger, DHPLC
Known variant Known
Reference ID rs794726836
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Intron17
Protein Domain DIIDIII linker
Inheritance Mosaic
Variant Classification Pathogenic
Clinical diagnosis SMEI
Gender Male
Ethnogenesis Unknown
Family history Brother: SMEI; Paternal cousin: unclassified seizures
Age of seizure onset 6 months old
Short descriptions for Cases
References Gennaro, Elena, et al. "Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy." Biochemical and biophysical research communications 341.2 (2006): 489-493.
co-existing variant(s)