NM_000834.5(GRIN2B):c.1347G>A (p.Glu449=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003805496.2
Allele description [Variation Report for NM_000834.5(GRIN2B):c.1347G>A (p.Glu449=)]
NM_000834.5(GRIN2B):c.1347G>A (p.Glu449=)
Condition(s)
-
RecName: Full=Tyrosine--tRNA ligase, cytoplasmic; AltName: Full=Tyrosyl-tRNA syn...
RecName: Full=Tyrosine--tRNA ligase, cytoplasmic; AltName: Full=Tyrosyl-tRNA synthetase; Short=TyrRS; Contains: RecName: Full=Tyrosine--tRNA ligase, cytoplasmic, N-terminally processedgi|13638438|sp|P54577.4|SYYC_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024