NM_001330078.2(NRXN1):c.3560T>C (p.Ile1187Thr) AND Pitt-Hopkins-like syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001985055.5
Allele description [Variation Report for NM_001330078.2(NRXN1):c.3560T>C (p.Ile1187Thr)]
NM_001330078.2(NRXN1):c.3560T>C (p.Ile1187Thr)
Condition(s)
-
hypothetical protein E5Q_03378 [Mixia osmundae IAM 14324]
hypothetical protein E5Q_03378 [Mixia osmundae IAM 14324]gi|358057359|dbj|GAA96708.1||gnl|WG T|GAA96708Protein
-
Homo sapiens eukaryotic translation initiation factor 5A (EIF5A), transcript var...
Homo sapiens eukaryotic translation initiation factor 5A (EIF5A), transcript variant D, mRNAgi|1890327853|ref|NM_001143762.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024