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NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) AND Early infantile epileptic encephalopathy 4

Significance: Pathogenic
ClinVar: RCV000007122

Variant: NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter)

Type: Variant
Allele: NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) 21769
Gene:
Type: single nucleotide variant
Location: Chr9: 127675855 - assembly GRCh38
Chr9: 130438134 - assembly GRCh37
References: dbSNP: 121918321
OMIM: 602926.0005

Condition

Disease: Early infantile epileptic encephalopathy 4