166848560 T/C: c.5225A>G: p.Asp1742Gly: Missense
Reference genomes | Human GRCh37/hg19 |
---|---|
Genomic position | 166848560 |
Ref/Alt | T/C |
Genbank transcript ID | NM_001165963.1 |
cds change | c.5225A>G |
cds alteration type | Non-synonymous |
Zygosis | Heterozygous |
AA change | p.Asp1742Gly |
AA alteration type | Missense |
Detection methods | PCR-Sanger |
Known variant | Known |
Reference ID | rs121918812 |
MAF in 1000G | . |
MAF in ExAC | . |
MAF in genomAD | . |
Exon/Intron | Exon26 |
Protein Domain | DIVS5S6 loop |
Inheritance | Inherited |
Variant Classification | Uncertain significance |
Clinical diagnosis | GEFS+ |
Gender | Female |
Ethnogenesis | South American |
Family history | Father: FS+; Paternal aunts: FS+; Paternal grandmother: FS+; Paternal cousins: FS |
Age of seizure onset | 5 months old |
Short descriptions for Cases | Corrected c.5213A>G; Clinical information of IV:1 |
References | Pineda-Trujillo, N., et al. "A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree." Seizure-European Journal of Epilepsy 14.2 (2005): 123-128. |
co-existing variant(s) |