GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_003165.4(STXBP1):c.1756G>A (p.Asp586Asn) AND Early infantile epileptic encephalopathy 4

Significance: Pathogenic
ClinVar: RCV000626112

Variant: NM_003165.4(STXBP1):c.1756G>A (p.Asp586Asn)

Type: Variant
Allele: NM_003165.4(STXBP1):c.1756G>A (p.Asp586Asn) 513586
Gene:
Type: single nucleotide variant
Location: Chr9: 127684421 - assembly GRCh38
Chr9: 130446700 - assembly GRCh37
References: dbSNP: 746172968

Condition

Disease: Early infantile epileptic encephalopathy 4