NM_000321.3(RB1):c.49G>A (p.Ala17Thr) AND Retinoblastoma
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 2, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001294674.8
Allele description [Variation Report for NM_000321.3(RB1):c.49G>A (p.Ala17Thr)]
NM_000321.3(RB1):c.49G>A (p.Ala17Thr)
Condition(s)
- Name:
- Retinoblastoma (RB1)
- Synonyms:
- Eye cancer, retinoblastoma; RETINOBLASTOMA, SOMATIC
- Identifiers:
- MONDO: MONDO:0008380; MeSH: D012175; MedGen: C0035335; Orphanet: 790; OMIM: 180200; Human Phenotype Ontology: HP:0009919
-
meiosis regulator and mRNA stability factor 1 isoform 3 [Homo sapiens]
meiosis regulator and mRNA stability factor 1 isoform 3 [Homo sapiens]gi|297206754|ref|NP_001171928.1|Protein
-
Mus musculus Hus1 homolog (S. pombe) (Hus1), mRNA
Mus musculus Hus1 homolog (S. pombe) (Hus1), mRNAgi|142352788|ref|NM_008316.3|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 1, 2024