GENETIC ENCYCLOPEDIA
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NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter) AND Early infantile epileptic encephalopathy 4

Significance: Pathogenic
ClinVar: RCV000179420

Variant: NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter)

Type: Variant
Allele: NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter) 195318
Gene:
Type: single nucleotide variant
Location: Chr9: 127661140 - assembly GRCh38
Chr9: 130423419 - assembly GRCh37
References: dbSNP: 794727792

Condition

Disease: Early infantile epileptic encephalopathy 4