NM_001130438.3(SPTAN1):c.4556A>G (p.Lys1519Arg) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003590993.2
Allele description [Variation Report for NM_001130438.3(SPTAN1):c.4556A>G (p.Lys1519Arg)]
NM_001130438.3(SPTAN1):c.4556A>G (p.Lys1519Arg)
Condition(s)
-
VPS29 protein [Homo sapiens]
VPS29 protein [Homo sapiens]gi|21595558|gb|AAH32462.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024