NM_001165963.4(SCN1A):c.574T>C (p.Trp192Arg) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003753492.2
Allele description [Variation Report for NM_001165963.4(SCN1A):c.574T>C (p.Trp192Arg)]
NM_001165963.4(SCN1A):c.574T>C (p.Trp192Arg)
Condition(s)
-
CA609704 (0)
OMIM
-
homeobox protein Nkx-2.5 [Mus musculus]
homeobox protein Nkx-2.5 [Mus musculus]gi|6679068|ref|NP_032726.1|Protein
-
Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 2, mRNA
Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 2, mRNAgi|1913184142|ref|NM_015503.3|Nucleotide
-
zt01a07.s1 NCI_CGAP_GCB1 Homo sapiens cDNA clone IMAGE:711828 3', mRNA sequence
zt01a07.s1 NCI_CGAP_GCB1 Homo sapiens cDNA clone IMAGE:711828 3', mRNA sequencegi|1923738|gnl|dbEST|921967|gb|AA28 1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024