NM_001042492.3(NF1):c.7158T>C (p.Phe2386=) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 6, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000605560.1
Allele description [Variation Report for NM_001042492.3(NF1):c.7158T>C (p.Phe2386=)]
NM_001042492.3(NF1):c.7158T>C (p.Phe2386=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
RecName: Full=3-phosphoshikimate 1-carboxyvinyltransferase; AltName: Full=5-enol...
RecName: Full=3-phosphoshikimate 1-carboxyvinyltransferase; AltName: Full=5-enolpyruvylshikimate-3-phosphate synthase; Short=EPSP synthase; Short=EPSPSgi|189046260|sp|A5ISZ4.1|AROA_STAA9Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024