NM_000321.3(RB1):c.1376C>T (p.Ser459Phe) AND Retinoblastoma
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Dec 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000822868.7
Allele description [Variation Report for NM_000321.3(RB1):c.1376C>T (p.Ser459Phe)]
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe)
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
-
JGI_XZT30827.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7607045 3'...
JGI_XZT30827.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7607045 3', mRNA sequencegi|57136006|gnl|dbEST|26989311|gb|C 49.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024