NM_000222.3(KIT):c.1081G>T (p.Asp361Tyr) AND Gastrointestinal stromal tumor
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 20, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001956868.6
Allele description [Variation Report for NM_000222.3(KIT):c.1081G>T (p.Asp361Tyr)]
NM_000222.3(KIT):c.1081G>T (p.Asp361Tyr)
Condition(s)
- Name:
- Gastrointestinal stromal tumor
- Synonyms:
- Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Gastrointestinal stroma tumor
- Identifiers:
- MONDO: MONDO:0011719; MeSH: D046152; MedGen: C0238198; Orphanet: 44890; OMIM: 606764; Human Phenotype Ontology: HP:0100723
-
Porencephaly-cerebellar hypoplasia-internal malformations syndrome
Porencephaly-cerebellar hypoplasia-internal malformations syndromeMedGen
-
C1832472[conceptid] (1)
MedGen
-
pgap1 [Kryptolebias marmoratus]
pgap1 [Kryptolebias marmoratus]Gene ID:108249331Gene
-
UBE2E3 [Balaenoptera acutorostrata]
UBE2E3 [Balaenoptera acutorostrata]Gene ID:103010628Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 16, 2024