NM_001378026.1(NBEAL1):c.4996A>G (p.Ile1666Val) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004475059.1
Allele description [Variation Report for NM_001378026.1(NBEAL1):c.4996A>G (p.Ile1666Val)]
NM_001378026.1(NBEAL1):c.4996A>G (p.Ile1666Val)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
queuine tRNA-ribosyltransferase catalytic subunit 1 [Homo sapiens]
queuine tRNA-ribosyltransferase catalytic subunit 1 [Homo sapiens]gi|13654276|ref|NP_112486.1|Protein
-
txid1240361[Organism] (5)
BioProject
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See more...Assertion and evidence details
Last Updated: May 7, 2024