NM_001019.5(RPS15A):c.213G>A (p.Lys71=) AND Diamond-Blackfan anemia 20
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000754827.2
Allele description [Variation Report for NM_001019.5(RPS15A):c.213G>A (p.Lys71=)]
NM_001019.5(RPS15A):c.213G>A (p.Lys71=)
Condition(s)
-
Rattus norvegicus lysine methyltransferase 5B (Kmt5b), mRNA
Rattus norvegicus lysine methyltransferase 5B (Kmt5b), mRNAgi|157817844|ref|NM_001108512.1|Nucleotide
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Last Updated: Apr 23, 2022