NM_000399.5(EGR2):c.764C>G (p.Thr255Ser) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003195284.2
Allele description [Variation Report for NM_000399.5(EGR2):c.764C>G (p.Thr255Ser)]
NM_000399.5(EGR2):c.764C>G (p.Thr255Ser)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens PDZ-binding kinase; T-cell originated protein kinase (TOPK), mRNA
Homo sapiens PDZ-binding kinase; T-cell originated protein kinase (TOPK), mRNAgi|8923876|ref|NM_018492.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024