NM_003977.4(AIP):c.16G>A (p.Ala6Thr) AND Somatotroph adenoma
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003460124.1
Allele description [Variation Report for NM_003977.4(AIP):c.16G>A (p.Ala6Thr)]
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
Condition(s)
- Name:
- Somatotroph adenoma (PITA1)
- Synonyms:
- ISOLATED FAMILIAL SOMATOTROPINOMA; SOMATOTROPHINOMA, FAMILIAL; Pituitary tumor, growth hormone-secreting, somatic; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007052; MedGen: C4538355; Orphanet: 314777; Orphanet: 963; OMIM: 102200
-
Mus musculus transmembrane protein 230 (Tmem230), transcript variant 1, mRNA
Mus musculus transmembrane protein 230 (Tmem230), transcript variant 1, mRNAgi|213972599|ref|NM_027478.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023