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166848230 A/G: c.5555T>C: p.Met1852Thr: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848230
Ref/Alt A/G
Genbank transcript ID NM_001165963.1
cds change c.5555T>C
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Met1852Thr
AA alteration type Missense
Detection methods PCR-Sanger
Known variant Known
Reference ID rs121918783
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance Inherited
Variant Classification Pathogenic
Clinical diagnosis GEFS+
Gender Male
Ethnogenesis Italian
Family history Sister: GEFS+; Father: FS+.
Age of seizure onset Unknown
Short descriptions for Cases Corrected c.5522T>C; p.Met1841Thr (NM_006920.4)
References Annesi, Grazia, et al. "Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus." Epilepsia 44.9 (2003): 1257-1258.
co-existing variant(s)