GENETIC ENCYCLOPEDIA
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NM_003165.4(STXBP1):c.734A>G (p.His245Arg) AND Early infantile epileptic encephalopathy 4

Significance: Likely pathogenic
ClinVar: RCV000147705

Variant: NM_003165.4(STXBP1):c.734A>G (p.His245Arg)

Type: Variant
Allele: NM_003165.4(STXBP1):c.734A>G (p.His245Arg) 168753
Gene:
Type: single nucleotide variant
Location: Chr9: 127666236 - assembly GRCh38
Chr9: 130428515 - assembly GRCh37
References: dbSNP: 587784453

Condition

Disease: Early infantile epileptic encephalopathy 4