NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000529426.11
Allele description [Variation Report for NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro)]
NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro)
Condition(s)
-
Homo sapiens matrix remodeling associated 7 (MXRA7), transcript variant 2, mRNA
Homo sapiens matrix remodeling associated 7 (MXRA7), transcript variant 2, mRNAgi|1677539336|ref|NM_001008529.3|Nucleotide
-
Piso0_002670 [Millerozyma farinosa CBS 7064]
Piso0_002670 [Millerozyma farinosa CBS 7064]gi|359381523|emb|CCE81982.1|Protein
-
amp-dependent synthetase and ligase, partial [Nannochloropsis gaditana]
amp-dependent synthetase and ligase, partial [Nannochloropsis gaditana]gi|585104306|gb|EWM23300.1||gnl|WGS |Naga_101051g1.10358Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024