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NM_003165.4(STXBP1):c.533C>T (p.Thr178Ile) AND Early infantile epileptic encephalopathy 4

Significance: Uncertain significance
ClinVar: RCV000680110

Variant: NM_003165.4(STXBP1):c.533C>T (p.Thr178Ile)

Type: Variant
Allele: NM_003165.4(STXBP1):c.533C>T (p.Thr178Ile) 552130
Gene:
Type: single nucleotide variant
Location: Chr9: 127663308 - assembly GRCh38
Chr9: 130425587 - assembly GRCh37
References: dbSNP: 1564350546

Condition

Disease: Early infantile epileptic encephalopathy 4