NM_021072.4(HCN1):c.870T>G (p.Asp290Glu) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002300407.3
Allele description [Variation Report for NM_021072.4(HCN1):c.870T>G (p.Asp290Glu)]
NM_021072.4(HCN1):c.870T>G (p.Asp290Glu)
Condition(s)
-
acyl-CoA-binding domain-containing protein 4 isoform X2 [Glycine max]
acyl-CoA-binding domain-containing protein 4 isoform X2 [Glycine max]gi|2027513741|ref|XP_040865893.1|Protein
-
enoyl-CoA hydratase-related protein [Clostridium kluyveri]
enoyl-CoA hydratase-related protein [Clostridium kluyveri]gi|501051242|ref|WP_012102871.1|Protein
-
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024