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166847823 G/A: c.5962C>T: p.Arg1988Trp: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166847823
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5962C>T
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Arg1988Trp
AA alteration type Missense
Detection methods Gene panel
Known variant Known
Reference ID rs756519197
MAF in 1000G .
MAF in ExAC 8.28E-06
MAF in genomAD 4.07E-06
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Inherited
Variant Classification Uncertain significance
Clinical diagnosis Epilepsy-Aphasia, FS +
Gender Male
Ethnogenesis Unknown
Family history Unknown
Age of seizure onset Unknown
Short descriptions for Cases Corrected c.5962G>A
References Carvill, Gemma L., et al. "Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1." Nature genetics 45.7 (2013): 825.
co-existing variant(s)