NM_014413.4(EIF2AK1):c.1645C>G (p.Leu549Val) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004114963.1
Allele description [Variation Report for NM_014413.4(EIF2AK1):c.1645C>G (p.Leu549Val)]
NM_014413.4(EIF2AK1):c.1645C>G (p.Leu549Val)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Oct 8, 2024